Man-made tragedies

 

Kerala experienced devastating rain, landslides and flood for the third consecutive year. We lost many human lives apart from houses, animals and crops. Even though we used to get heavy rain fall during monsoon extending from June to September every year, it never caused such a disaster as far as I can remember. So it remains as a question among many, why this much destruction, that too for three years at a stretch. Do we have to face this every year in future?

The answer appears complex. Who is responsible for all these? We are only to blame, the citizens of the state. We can argue that this is happening not only in Kerala. Other states of India also had floods and landslide. When the country as a whole is affected then it is a national issue. We have to examine the reason, research, discuss and solve the issue at the national level.

When these issues are recurring, then the blaming finger will point to our approach to environmental issues. These include management of land, water and air. There is deterioration of the environment through depletion of resources such as air, water and soil due to human activity. This will lead to environmental degradation, which includes destruction of ecosystems. Environmental degradation is one of the primary causes for emergence of disease outbreaks. We have seen many new and emerging diseases during the last 2 decades and we find it difficult to contain such out breaks. Zoonosis is a consequence of deforestation when wild life increasingly enters the human habitats.

The major causes of the environmental degradation are urbanization, industrialization, population growth and deforestation. The availability and use of natural resources have a bearing on the outcome and the pace of development process. Healthy biological systems are basic for the long term development such as agriculture, business, wild life, fisheries and tourism.

The integrity of these vital natural assets is increasingly compromised and 60 to 70% of our ecosystems are degrading faster than they can recover. This is due to the uncontrolled growth of urbanization and industrialization, expansion and intensification of agriculture and the destruction of natural habitats.  The rapid population growth is a major cause of environmental degradation when it exceeds the thresh hold limits of the support systems. One thing we forget here is that, degraded environment can accelerate poverty because the poor and marginalized depend directly on natural assets. Direct impacts of agricultural development on the environment arise from farming activities which contribute to soil erosion and loss of nutrients. Deforestation is another consequence of increased farming activities. This is directly related to population growth. Deforestation again leads to soil erosion and the ultimate result is landslides and flood.

Biodiversity is important for maintaining balance of the ecosystem in the form of combating pollution, restoring nutrients, protecting water sources and stabilizing climate. The main cause of loss of biodiversity is deforestation, global warming, overpopulation and pollution. In fact human beings have deeply altered the environment, and have modified the territory, exploiting the species directly, for example by fishing and hunting, changing the biogeochemical cycles and transferring species from one area to another.

The Ministry of Environment & Forests in the Government is responsible for protection, conservation and development of environment. The Ministry coordinate the activities through State Governments, Pollution Control Boards and specialized establishments. There is no effective coordination amongst various Ministries or/Institutions regarding environmental protection. Current policies are also fragmented across different states. These differing policy help unlawful activities to take place such as mining, blasting, deforestation and hunting. Environmentally fragile land should be protected from encroachments and unlawful activities to safeguard future generation from flash floods, soil erosion, landslide and loss of life.

In our country, many a time decisions are made on compulsions. There are pressure groups that will influence the administrators, whether it is beaurocrats or politicians. Our environmental laws are being diluted because of these and more and more encroachment and deforestation take place. I remember the decision of the district collector of Wayanad to ban all high-rise constructions in the district. His reasoning was simple. Wayanad being an environmentally fragile land, high rise buildings with its impact due to digging and piling may lead to soil erosion. This decision was immediately over ruled, probably because of pressure from builders. In United Kingdom high rise buildings are permitted only in metropolitan cities. Suburbs and villages can go up to 3 stories only. This is being strictly followed and monitored. Most of the time, when permission is granted for mining, sand blasting or construction, no monitoring is being done and hence minor violation is not brought to the notice. This is also very rampant in our country.

What we need is strict rules that are not sacrificed on any sort of compulsion. There should be very strict and regular monitoring and we should come down heavily on non-compliance. Environmental deterioration and loss of biodiversity will heavily affect the people. This may be in the form of flood, landslides, loss of crops, attack by wild animals or outbreaks of rare and emerging diseases. So it becomes the duty of all citizens to protect our own environment.

DO WE HAVE IDEAL GOVERNANCE?

 

DO WE HAVE IDEAL GOVERNANCE?

Ours is a democratic country with states as federal units. Both center and state has its own powers to exercise, but within the democratic frame work. As we all know in democracy, people are more powerful and any Governance should address their real issues. Every Govt. has the responsibility of providing safe and secure life to its citizens. They should get adequate food and water, adequate cloths and safe place to live. Ideal governance is one which addresses these issues.

As an independent observer for the last many years, I feel that most of our past governments failed to address the basic needs of its citizen. Our last good chief minister was Sri C Achutha Menon during 1970-76 and the last powerful chief minister was Sri K Karunakara, during 1976-81. All others were mere political leaders who failed to grow beyond their narrow political circle. Politicians are bound to follow their party’s ideology and work pattern. But once they are elected as peoples’ representatives or appointed as ministers, they should be able to break the party’s shackles and work for the entire society. Then there is no difference between party workers. All are citizens under their governance.

As years pass by there is considerable deterioration in the standard by which consequent governments worked. The common man, especially the poor, the marginalized are at a loss and their problems are never settled to their advantage. Even at this stage when Covid-19 is devastating the lives, politicians and those in the Governments are involved in brick battle. Those who are close to the power are amassing their fortunes at the cost of poor people.

Are we all going to remain at the receiving end forever? Is there any end to this political drama? When can we get good administrators?

These are all questions asked by majority in our state. They feel they are helpless. They expect some savior to appear dramatically to help them. Seeing the trend I am doubtful about these. People should come forward. People who suffer should act. There are lots of good Samaritans in the state. They are doing their work for the benefit of people without being noticed. But they are all isolated in their own means. There should be some means to connect these people, to form a force to reckon with.

It can be done through media only. Social media is powerful. It is being used for unnecessary arguments, stone pelting and biased reports. At least a few media with good intention should join together to start a campaign before the next election. It should grow as a movement, one which is noticed by everybody. Of course there will be criticism. But if our intentions are straight forward nobody can beat us. This is my belief. I am not against any political parties, but I believe that the political perception of our common man should change. It should change for a better tomorrow.

POPCORN LUNG

Introduction

Bronchiolitis obliterans is a type of obstructive lung disease affecting the small airways. It is a rare condition characterized by fibrosis of terminal and respiratory bronchioles; and spirometry showing predominant small airway dysfunction. It usually leads to progressive decline in lung function and has variable outcomes. Etiology includes lung transplant and hematopoietic stem cell transplantation, exposure to inhaled toxins and gases including mustard gas, nitrogen oxides, diacetyl and fiberglass. Bronchiolitis obliterans is also associated with autoimmune disorders. This is a case report of bronchiolitis obliterans in a coffee processing unit worker in Wayanad district of Kerala.

Case report

 A 51-year-old male patient, doing manual work, presented with a history of progressive breathlessness for the last 10 years. He also had cough with scanty expectoration. No history of haemoptysis or chest pain. He had few hospital admissions during the past 10 years mostly with febrile illness. He was being treated as chronic obstructive pulmonary disease. There was no history of childhood asthma or family history of asthma. He was a smoker for 25 years and stopped 5 years back. During this admission, X–ray chest was taken which showed hyperinflation and diffuse reticular shadows both sides with coalescence of shadows on both lower zones (Fig-1A). These lesions appeared different from the increased broncho-vascular markings that are usually seen in chronic bronchitis. Spirometry showed obstructive lung function with predominant small airway dysfunction (21% predicted).

High resolution computed tomography (HRCT) thorax revealed diffuse reticular shadows, few nodular shadows, thin walled cysts and air trapping. This type of HRCT appearance is seen in Popcorn lung and Marijuana smoking. He denied use of Marijuana at any point of time. He was working in a coffee processing unit for 20 years and quit the job once he developed respiratory symptoms. Coffee processing unit was a medium sized facility where coffee roasting and grinding were done. He used to work in both sections. Confirmation of diagnosis with a lung biopsy was suggested, but the patient did not favor any invasive procedure.

Fig: X-Ray Chest PA view showing hyperinflation and bilateral diffuse reticular shadows. HRCT Thorax axial section from the lower lobes shows extensive reticulation, bronchiolar wall thickening, air trapping and cyst formation. 

Discussion

The clinical and radiological presentation resembled that of “Popcorn Lung” reported in workers of a microwave popcorn plant in Missouri in 2002. This was caused by a flavoring agent termed diacetyl (2,3-butanedione) which is used to give the popcorn a buttery taste. Later, it was reported that this flavoring agent is extensively used in e-cigarettes, favoring the development of this condition among those who use e-cigarettes. Further, it is proved that this chemical is a natural byproduct in coffee-roasting and coffee-grinding processes. Hence, unacceptable levels of diacetyl in these units may cause popcorn lung. In their report, the Centers for Disease Control and Prevention (CDC) confirmed that occupational exposure to diacetyl and a related compound, 2,3-pentanedione, can cause bronchiolitis obliterans and loss of lung function. The CDC also reported that these potentially harmful chemicals were found at higher-than-expected levels at some coffee-processing facilities. Popcorn lung (bronchiolitis obliterans) often is associated with symptoms of cough and shortness of breath, similar to that seen in patients with COPD and asthma. This pathology is irreversible and progressive, and there is no definite treatment. Diagnosis is often delayed due to nonspecific clinical features and is initially treated as COPD or asthma. Lung tissue biopsy is necessary to confirm the diagnosis of bronchiolitis obliterans.

Wayanad district in Kerala is predominantly a tea and coffee growing farmland at a moderate high altitude. Hence there is lots of small and large scale coffee processing units. It is highly possible that workers in these processing units (Roasting or grinding) may be exposed to diacetyl leading to development of bronchiolitis obliterans. These patients due to their nonspecific symptoms and poor awareness of this entity are treated as COPD.

CONGENITAL PULMONARY AIRWAY MALFORMATION

CASE REPORT

A 58-year-old female patient presented to the OPD with complaints of persistent cough and expectoration since past 3 months. There was a history of intermittent episodes of hemoptysis associated with low grade fever. She also had a history of dyspnoea on exertion. There was history of recurrent episodes of similar illness for the past 10 years. She used to get cough, scanty sputum, haemoptysis and fever, 2-3 times every year. CT Thorax done in 2014 reported it as bronchiectasis. She was under follow up treatment as a case of bronchiectasis for the past 4 years. She also gave history of antituberculous treatment (ATT) twenty-five years back, details of which were not available. She is a known hypothyroid patient on thyroid replacement therapy. X-ray chest showed few cystic lesions in the right mid and upper zone. HRCT thorax showed a large cyst in the right upper lobe surrounded by a bunch of small cysts. Surgery was advised which the patient refused. She was put on conservative medical management and regular follow up.

DISCUSSION

Congenital pulmonary airway malformations (CPAM) are multicystic masses of segmental lung tissue with abnormal bronchial proliferation. This entity was first described by Chin and Tang in 1949 as congenital cystic adenomatoid malformation (CCAM). Later in 2002, Stocker proposed the name CPAM and classified in to 5 types.

CPAM Type 0-Acinar dysplasia/agenesis is a rare malformation largely incompatible with life. Lungs are small, firm with diffusely granular surface. Microscopically, it shows bronchus like structures with muscle, glands and numerous cartilage plates and loose, vascular mesenchymal tissue.

CPAM Type I-It accounts for nearly 60-65% of cases. Lesion is predominantly cystic type (measuring 3-10 cm in diameter) surrounded by smaller cysts. Microscopically, the large, thin walled cysts are lined by ciliated pseudostratified columnar epithelium with some mucin producing cells. The wall composed of fibromuscular and elastic tissue It is operable and has a good prognosis.

CPAM Type II-it accounts for 10%-15% of cases and mainly seen in first year of life. It has poor prognosis because it is frequently associated with other congenital anomalies. Grossly lesion is composed of medium sized cysts measuring 0.5 to 2.0 cm in diameter that are evenly distributed and blend with the adjacent normal parenchyma. CPAM Type 2 has been noted in nearly 50% cases of extralobar sequestration.

CPAM Type III- It is infrequent and accounts only about 5% of cases. It is small cystic or solid type, exclusively seen in first few days to months of life with characteristic male preponderance. It is commonly associated with maternal polyhydramnios or foetal anasarca. It has high mortality rate. Cysts are small measuring less than 0.2 cm in diameter, forming large bulky mass involving an entire lobe or even an entire lung. Microscopically the lesion resembles an immature lung devoid of bronchi.

CPAM Type IV-It accounts for 10%-15% of cases and presents as hamartomatous malformation of the distal acinus. It is seen in age range of newborn to 4 years. This lesion involves a single lobe. Grossly large, thin walled cysts are lined by flattened epithelium-alveolar lining cells with underlying loose, fibrovascular mesenchymal tissue.

The reported incidence of CPAM ranges from 1 in 11,000 to 1 in 35,000 live births. The accepted pathogenesis for CPAM is that an abnormal airway patterning and branching during lung morphogenesis results in the appearance of lung cysts. This condition results from the failure of normal bronchoalveolar development with a hamartomatous proliferation of terminal respiratory units in a gland-like pattern (adenomatoid) without proper alveolar formation. Histologically, they are characterized by adenomatoid proliferation of bronchiole-like structures and macro- or microcysts lined by columnar or cuboidal epithelium, presence of mucus secreting cells and absence of cartilage

.

The microscopic features that distinguish CPAM from normal lung include the following:(i) Proliferation of the terminal respiratory structures forming cysts (ii) Polypoid projections of the mucosa (iii) Increased smooth muscle and elastic tissue within cyst walls (iv) The absence of cartilage (v) The presence of mucous-secreting cells and (vi) The absence of inflammation. The diagnosis is usually made either on antenatal ultrasound or in the neonatal period during the investigation of progressive respiratory distress. If large, they may cause pulmonary hypoplasia, with resultant poor prognosis. In cases where the abnormality is small, the diagnosis may not be made for many years or even until adulthood. When it does become apparent, it is usually as a result of recurrent chest infection.

CPAM in adults is very rare. Enuh et al. reported CPAM with aspergillosis in a 59-year-old male who died secondary to massive hemoptysis and development of disseminated intravascular coagulation during lobectomy. Morelli et al. described CPAM in a 38-year-old male with persistent cough and hemoptysis who did well after lobectomy. A case of CPAM in a 56-year old female was reported in 2018 which remains the second oldest case of CPAM so far reported. Because of the higher percentage of asymptomatic cases of CPAM and various degrees of lung involvement, it might be difficult to determine the prognosis in adults. Late-onset CPAM in adults may be more complicated on radiographic images due to recurrent infections. CPAM usually involve a single lobe. The lesion involving bilateral lobes of the lung is also uncommonly encountered. In CPAM associated literatures, a few bilateral CPAM cases in adult patients have been reported. Bilateral CPAM may appear like interstitial pneumonia because of similar CT scan presentations showing grid-like opacity through the entire lung fields. The extensive involvement of the lesion increases the risk of surgery. Therefore, most patients with such lesions are treated with conservative treatment once diagnosis is confirmed by lung biopsy.

Accelerated junctional rhythm (AJR)

Accelerated junctional rhythm (AJR) occurs when the rate of an AV junctional pacemaker exceeds that of the sinus node. This situation arises when there is increased automaticity in the AV node coupled with decreased automaticity in the sinus node. Causes of AJR are digoxin toxicity, use of beta-agonists, e.g. isoprenaline, adrenaline, Sick sinus syndrome, myocardial ischaemia, myocarditis (acute rheumatic fever, lyme disease, Diphtheria) and metabolic states with increased adrenergic tone. Certain drugs which can cause bradycardia such as beta blockers, calcium channel blockers and antiarrhythmic agents can also induce AJR.

Fig-1: ECG of a 25 year old female having dextrocardia, situs inversus and congenital cyanotic heart disease. 

Junctional rhythms are classified by their rate as 1) Junctional Escape Rhythm: 40-60 bpm 2) Accelerated Junctional Rhythm: 60-100 bpm and 3) Junctional Tachycardia: > 100 bpm.

They may also be classified by aetiology as automatic Junctional Rhythms (e.g. AJR) = Due to enhanced automaticity in AV nodal cells or re-entrant Junctional Rhythms (e.g. AVNRT), due to re-entrant loop involving AV node.

Fig-2: Example of an accelerated junctional rhythm (courtesy ECG library)

ECG Features of AJR

·         Narrow complex rhythm; QRS duration < 120ms (unless pre-existing bundle branch block or rate-related aberrant conduction).

·         Ventricular rate usually 60 – 100 bpm.

·         Retrograde P waves may be present and can appear before, during or after the QRS complex.

·         Retrograde P waves are usually inverted in the inferior leads (II, III, aVF), upright in aVR + V1.

·         AV dissociation may be present with the ventricular rate usually greater than the atrial rate.

·         There may be associated ECG features of digoxin effect or digoxin toxicity.

Periods of junctional rhythm are not necessarily associated with an increase in mortality. If an obvious cause is present, such as complete heart block or sick sinus syndrome, then the morbidity or mortality is directly related to that and not to the junctional rhythm mechanism, which is serving as a "backup rhythm" during the periods of bradycardia. Accelerated junctional rhythms may be a sign of digitalis toxicity.

ECG features may be mistaken for that of dextrocardia as this patient is having dextrocardia and situs inversus. In dextrocardia inverted P wave is seen only in Lead-1 and upright P in aVR. Other features are right axis deviation, positive QRS complexes (with upright P and T waves) in aVR, inversion of all complexes (global negativity) in Lead I and absent R-wave progression in the chest leads.

Complications

Complications of junctional rhythm are usually limited to symptoms such as dizziness, dyspnea, or presyncope. Exacerbation of cardiac comorbidities, such as congestive heart failure and rate-related cardiac ischemia, may occur.

Multiple congenital defects in a young adult with features not limited to a syndrome A rare case report

Multiple congenital defects in a young adult with features not limited to a syndrome

A rare case report

Summary

We report the case of a 25-year-old female, presenting to the hospital with history of fever, cough and breathlessness of 3 days duration.  She was diagnosed to have congenital cyanotic heart disease in early childhood, but no intervention was done till date. She used to get recurrent respiratory infections which were treated as outpatient. On examination she is of short stature with kyphoscoliosis, having triangular face with retrognathia, hypertelorism, prominent epicanthal fold, low set ears, broad nose base and low posterior hair line. Her oxygen saturation with 4 litres oxygen was only 49%. She also had conductive deafness on the left ear. Patient’s genitalia and secondary sexual characters were well developed and her menstrual period last for 6-8 days with menorrhagia and dysmenorrhea. Other important features noted are cubitus valgus, pes cavus and systolic murmur suggestive of VSD. Echocardiography revealed dextrocardia, large VSD, pulmonary stenosis, double outlet right ventricle, right ventricular hypertrophy and transposition of great arteries. Ultrasonography revealed situs inversus and splenomegaly. Her ECG features were in favour of accelerated junctional rhythm. HRCT thorax to rule out bronchiectasis could not be performed as the clinical condition deteriorated rapidly and patient succumbed to her illness. This patient in spite of having multiple congenital defects that are fatal beyond infancy if not corrected lived up to 25 years. Not all her clinical features are limited to a known syndrome. Here we postulate that she had most of the features of Noonan syndrome or Noonan variant along with features of heterotaxy syndrome. A clinical syndrome with all these features is not so far reported in the literature.

Background

Noonan Syndrome (NS) is a relatively common congenital disease that affects both males and females equally. This is an autosomal dominant disorder with an incidence of 1 in 1000 to 2500 live births¹. This is caused by mutations in one of many genes such as PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, BRAF, and MAP2K1. The clinical features of NS include broad or webbed neck, low posterior hair line, typical chest deformity, short stature, ocular hypertelorism, epicanthal folds, triangula facies, micrognathism, kyphoscoliosis, cubitus valgus, pulmonary stenosis, ventricular or atrial septal defect and right ventricular hypertrophy.

Leopard syndrome is a Noonan Variant with features of hyperpigmented macules over the face and trunk (Lentigenes), electrocardiographic conduction defects, ocular Hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth and deafness.

Hetrotaxy syndrome has situs ambiguous or situs inversus. Situs ambiguous is a rare congenital defect where most organs are heterogeneously distributed in the chest and abdomen. In situs inversus, organs in the chest and abdomen are reversed. Paired organs may show isomerism. Isomerisms can be isolated, but can also be part of various syndromes, the best known of which—for its respiratory disorders—is immotile cilia syndrome, that includes Kartagener syndrome. This syndrome shows a recessive inheritance and is associated with situs inversus, heart defects, bronchiectasis, sinusitis, and otitis media as well as sterility in males².  Abnormal intestinal rotations are commonly found in patients with heterotaxy syndrome.^3,4 Heterotaxy can also cause polysplenia or asplenia associated with congenital heart defects. The heterotaxy syndrome associated with asplenia has a worse prognosis, because it is commonly associated with significant heart anomalies which include double outlet right ventricle, transposition of great arteries and ventricular septal defect.^5,6 However, the advances made in recent years in heart surgery and the early detection of heart disorders by prenatal ultrasonography have prolonged survival in patients with heterotaxy.^4,7

We report the case of a 25-year old adult female presenting with features of Noonan variant syndrome (Leopard syndrome) having additional features of Heterotaxy syndrome. This type of clinical presentation, which satisfies the diagnosis of both Leopard syndrome and Heterotaxy syndrome, is extremely rare and is not reported so far. More over this patient has congenital cardiac defects, which are not compatible with life if not corrected, and she has lived up to 25 years without surgical correction remains a mystery in clinical medicine.

Case presentation

A 25 year old female, from a low socioeconomic background, presented with complaints of fever, vomiting and increased breathlessness of 3 days duration. There is no history of cough with sputum production, orthopnea, PND, chest pain or palpitations. She gives history of recurrent chest infections since childhood. She also had left ear infections and bluish discoloration of hands and lips. There is no significant antenatal history, but her milestones were delayed and started walking at 7 years of age. She attained menarche at 16 years of age with regular cycle, associated with menorrhagia and dysmenorrhea. One of her maternal aunt had kyphoscoliosis and facial features similar to her. One child in her family died at 9 days of life.

She is short statured with a height of 146 cm and has clubbing and cyanosis. Her SaO2 is 49% on 4 ltrs. of O2. Other general physical features include widely set eyes, triangular face with broad forehead and micrognathia, broad nose base, low set ears, crowded teeth with gum hypertrophy, short and broad neck, low posterior hair line, hyper-pigmented macules over the trunk, kyphoscoliosis, cubitus valgus and pes cavus. Other features include asymmetrical chest, underdeveloped left mammary gland and precordial bulge. She has dextrocardia and situs inversus. Echocardiogram showed features of pulmonary stenosis, double outlet right ventricle, large VSD, right ventricular hypertrophy and transposition of great arteries. Neurological examination revealed conduction deafness on the left side. Ultrasound examination confirmed situs inversus and a large spleen.

Fig-1: Demonstrating the important clinical findings such as cyanosis (A), low posterior hair line (B) and thoracic kyphoscoliosis (C).Multiple hyper-pigmented macules are also seen on the back.

Investigations

Blood examination showed elevated total count with neutrophilic leukocytosis. ESR was 54 mm fall/1st hour. Platelet count was 1,18,000 cells/cmm.

X ray chest showed scoliosis of thoracic spine and dextrocardia. Stomach air bubble is not seen on the left side. ECG showed tachycardia and inverted P wave in all leads except aVR and V1. Echocardiographic features include situs inversus with dextrocardia, Double outlet right ventricle (DORV) with Transposition of grat arteries (TGA), subaortic ventricular septal defect (VSD), Pulmonary stenosis (TOF Physiology), dilated coronary sinus with SVC draining in to CS and normal biventricular function.

Ultrasound examination of abdomen revealed situs inversus with large spleen on the right side. Both kidneys were normal except increased echogenicity. Uterus and adenexia appeared normal.

Her renal function was altered with a blood urea of 88 mg% and serum creatinine of 3.2 mg%. Arterial blood gas analysis showed PaO2 24, PaCO2 30, HCO3 22 and a PH of 7.21

HRCT could not be performed to rule out Kartagener’s syndrome as the patient’s condition deteriorated rapidly.

Fig-2: X ray chest showed scoliosis of thoracic spine and dextrocardia. Stomach air bubble is not seen on the left side.

Fig-3: ECG showing tachycardia and inverted P wave in all leads except aVR and V1.

Discussion

Noonan Syndrome (NS) is a relatively common congenital disease that affects both males and females equally. This is an autosomal dominant disorder with an incidence of 1 in 1000 to 2500 live births¹. This is caused by mutations in one of many genes such as PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, BRAF, and MAP2K1. Noonan syndrome was first described in 1963 by Noonan and Ehmke⁹. It is also known by synonyms such as male turner syndrome or female pseudo turner syndrome. These patients were previously thought to have a form of Turner syndrome, with which Noonan syndrome shares numerous clinical features. Patients with Noonan syndrome have normal karyotypes to differentiate it from Turner syndrome. Classical Noonan phenotype has features such as short stature, short or webbed  neck, low posterior hair line, ocular hypertelorism, short nose with broad base, low set ears with posterior folding, triangular facies with small chin, padded fingers and toes, lymphedema, mental retardation, pulmonary stenosis, atrial or ventricular septal defects, hypertrophic cardiomyopathy and bleeding tendency. Rarely coarctation of aorta and tetralogy of Fallot (TOF) were also reported¹⁰. This patient has most of these features to satisfy the diagnosis of Noonan Syndrome. Presence of sexual characteristics with regular menstrual cycles rule out the possibility of Turners syndrome. We could not do karyotyping to establish mutations responsible for this syndrome.

There are few clinical features in this patient which cannot be explained by Noonan syndrome. These are multiple hyper-pigmented macules over the trunk (lentigenes), electrocardiographic conduction defect in the form of accelerated junctional tachycardia and conduction deafness. These features are described in Leopard syndrome which is a Noonan variant.  Leopard syndrome is a complex dysmorphogenetic disorder of variable penetrance and expressivity, first described by Zeisler and Becker in 1936¹¹. Gorlin et al introduced the acronym LEOPARD as the name of the syndrome in 1969¹² to highlight the main features of the disorder such as Lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R) and deafness (D). Not all of the findings are present in any given patient. LEOPARD syndrome, also known as Noonan syndrome with multiple lentigines, is a rare autosomal dominant disorder most often caused by missense mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase SHP2¹³.

Presence of dextrocardia, situs inversus, double outlet right ventricle and transposition of great arteries were never reported in Noonan syndrome or Leopard syndrome. These features make this patient unique in clinical presentation. It is very rare to see significant structural abnormalities of heart in dextrocardia with situs inversus. The structural abnormalities detected in this patient are all serious conditions with which patient cannot survive beyond infancy if not treated. This patient lived up to 25 years without undergoing any intervention is also unique. These features are explained in heterotaxy syndrome. Heterotaxy have been recognized since 1933 (complete) ¹⁴ and 1826 (incomplete)¹⁵. The habitual and orderly arrangement of the organs in the human body is determined early in the embryonic development and is based on genetic information¹⁶. The loss of such orderly arrangement may characterize situs inversus or a disordered and variable arrangement (heterotaxy syndrome). Heterotaxy syndrome has an approximate incidence of 1:10,000 births and is slightly more prevalent in men, at a ratio of 2:1.

Hetrotaxy syndrome has situs ambiguous or situs inversus.  Situs ambiguous is a rare congenital defect where most organs are heterogeneously distributed in the chest and abdomen. In situs inversus, organs in the chest and abdomen are reversed. Paired organs may show isomerism. Isomerisms can be isolated, but can also be part of various syndromes, the best known of which—for its respiratory disorders—is immotile cilia, that includes Kartagener syndrome. This syndrome shows a recessive inheritance and is associated with situs inversus, heart defects, bronchiectasis, sinusitis, and otitis media as well as sterility in males².  Abnormal intestinal rotations are commonly found in patients with heterotaxy syndrome. Heterotaxy can also cause polysplenia or asplenia associated with congenital heart defects. The heterotaxy syndrome associated with asplenia has a worse prognosis, because it is commonly associated with significant heart anomalies which include double outlet right ventricle, transposition of great arteries and ventricular septal defect.^5,6 At least 12% of primary ciliary dyskinesia (PCD) patients have heterotaxy.¹⁷ Cyanosis or poor peripheral perfusion is the most common findings in patients with heterotaxy. The liver may be on the left, rather than on the right, and it may span the abdomen. Dextrocardia may be identifiable. Other components of the syndrome include situs inversus totalis, dTGA, DORV, VSD, growth retardation and delayed milestones.

Conclusion

We report a rare case in a 25-year old female with a unique combination of clinical features. She has all clinical manifestations of Noonan variant- Leopard syndrome, and in addition has features of heterotaxy syndrome. Available literature did not show any similar case report. The cardiac defects are all serious and not compatible with life beyond infancy if not surgically corrected. This patient lived up to 25 years without any surgical correction. This syndrome may be called Leopard-Heterotaxy syndrome considering the clinical features of both Leopard syndrome and heterotaxy syndrome in one patient.

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COVID 19- How to tackle community spread?

COVID 19- How to tackle community spread?

Corona virus infection of 2019 (COVID 19) which started first in China is now showing all features of a pandemic with more than 100 countries affected. It appears to be a fast spreading viral infection and needs community participation to contain it. Disease is mild with mortality risk of about 3.4%. However it has created panic all over the world. The main concern is international travel and the ability of the virus to spread through contacts. This can be attributed to the high reproductive number (R0 value) of 2.28 the virus boasts coupled with the fact that the virus chose the most populous country in the world to wreak havoc. This high R0 value stresses the need for strict infection control and management to contain this illness.

As per preliminary reports death rate is not very high, but may differ from one country to other due to climate, geographical, ethnic and genetic factors. Most important factor in containing this epidemic is through community participation. Govt. should issue directions regarding the measures to be undertaken for controlling the spread. These directions are binding to all citizens across the region. Restricting international travel is one important measure, especially travel in and out of most affected countries is to be strictly restricted. Avoidable travel, travel for tourism purpose etc. can be cancelled or postponed to a later date.

Next important measure is surveillance in international airports; where in all international passengers are screened by a team of health care providers. Symptomatic should be isolated in health care facilities and treated and asymptomatic contacts can be quarantined in their homes so that mixing with other public is strictly restricted for at least 14 days. All contacts and suspects should be tested for presence of viral antigen.

Since the initial symptoms of the disease are like any other flu illness, even a minor running nose has created an undue fear amongst the people. Seeking early professional advice puts these patients at a higher risk of acquiring Covid 19 from the hospitals. Hence, self-quarantine is of paramount importance and needs to be stressed. Patients need to initially isolate themselves from their immediate kin, wear a surgical mask and follow strict hygiene measures to restrict transmission. Initially, symptomatic measures such as anti pyretics, adequate hydration and nasal decongestants may be taken. Professional help need only be sought if the symptoms persist.

A monitoring cell under the district health authority is to be formed and that is responsible for treating symptomatic, tracking contacts, allaying fear among public and to give directions to the public. There will be state cell to coordinate district activities and to provide money and materials to the district units. Health centers designated for quarantine of suspects should have chambers with negative pressure to contain the spread of the virus. Health workers should also be equipped with adequate supplies of gloves, N95 masks, respirators, goggles, face shields, gowns and aprons. It cannot be emphasized enough that these workers, being at the forefront of combating this illness, need to be protected at all costs. All details about each individual case so far reported should be traced with special details regarding mode of acquisition, age, travel and contact history, symptoms and signs, investigation reports, severity of disease, co morbidities, course of the disease and outcomes.

Contact tracing of a case suspect is of paramount importance to prevent spread in the community, especially in a highly populous country like India. Both primary and secondary contacts should be tracked and put on strict home quarantine. Meticulous planning and sincere effort done by the Govt. of Kerala in this direction is a model being appreciated by all.

There should be directions to avoid mass gatherings especially, festivals, meetings, marriage celebrations where large number of people are exposed.  It will be better to close all educational institutions for a period till containment is achieved. News bulletins, public awareness programmes through social media are essential to give updated information to the public. At the same time care should be taken not to create panic among citizens. Awareness about cough hygiene, hand hygiene and other general measure with special emphasis on early reporting and reassurance are the need of the hour.

WHO has declared Covid 19 as a pandemic and wanted all the countries to take urgent measures to contain the disease. The report from China is hopeful that number of new cases reported is coming down drastically. Hope that, with the concerted efforts of all we will be able stop the onslaught of 2019-nCoV.