Lane-Hamilton syndrome - Is it really a needle in a haystack?

Introduction: The association of pulmonary hemosiderosis with celiac disease (Lane-Hamilton syndrome) is extremely rare. Case Details: A five-year-old female child presented with fever, cough, breathlessness, and pallor for 20 days, without any previous history of recurrent lower respiratory tract infections, tuberculosis, or cardiac disease. There was no history of pica, chronic diarrhea, bleeding, or personal or family history of repeated blood transfusions. She had tachycardia, tachypnea, severe pallor, stunting, rickets, and bilateral fine lung crepitations. Peripheral smear and blood indices revealed dimorphic anemia. Anti-tissue transglutaminase IgA antibody levels were high (>200 U/mL) and the upper gastrointestinal endoscopy with duodenal biopsy confirmed the diagnosis of celiac disease. The child was discharged on a gluten-free diet (GFD) and oral hematinic, but her dietary compliance was poor. Interestingly, the child had persistent bilateral pulmonary infiltrates, which was initially attributed to congestive cardiac failure (CCF), which persisted even despite treatment. HRCT chest revealed interstitial thickening and bilateral alveolar shadows and bronchoalveolar lavage showed a few inflammatory cells. The child was readmitted four times with similar complaints and was given packed red cell transfusions. In the fourth admission, a lung biopsy was done, which revealed extensive pulmonary hemosiderosis. The patient was given a course of oral steroids for 6 weeks, with a gluten-free diet, following which both the anemia and the pulmonary infiltrates resolved. Conclusion: Pulmonary hemosiderosis is an important cause of anemia in cases of celiac disease and may be misdiagnosed as CCF due to severe anemia. A strict GFD, with or without corticosteroids, can reverse the clinical and radiological picture.

The predictors of outcome and progression of pediatric sepsis and septic shock: A prospective observational study from western India.

INTRODUCTION: There is a paucity of studies on the progression and outcome of Systemic Inflammatory Response Syndrome (SIRS) with its determinants. AIMS AND OBJECTIVES: To determine the predictors of the outcome and progression of pediatric sepsis and septic shock. MATERIALS AND METHODS: Prospective observational study of children fulfilling criteria of SIRS and their progression to sepsis, severe sepsis, and septic shock (clinically and biochemically) was conducted at a tertiary care center. RESULTS: Totally, 200 children were recruited over a period of 21 months (from February 2016 to October 2017). Most cases (80, 40%) were infants. Of the total, 188 (94%) cases were of an infective etiology (mostly respiratory system). Temperature and heart rate were the two commonest SIRS parameters which were deranged. Blood cultures were positive in only 25 (12.5%) cases. Out of the total 200 children, 108 progressed to sepsis, of which 26 progressed to severe sepsis, of which 22 progressed to septic shock. Abnormal leukocyte count, culture positivity and severe acute malnutrition were significantly associated with progression of SIRS patients to septic shock (P = 0.001, 0.00001 and 0.002, respectively). Factors associated with mortality were positive blood culture, multiorgan dysfunction, late hospital admissions, severe acute malnutrition, and requirement of supportive care (P values-<0.0001, <0.0001, 0.03, <0.0001 and <0.0001, respectively). CONCLUSIONS: SIRS can progress to septic shock if not identified early. The predictors of mortality were positive blood cultures, multiorgan dysfunction, late hospital admissions, severe acute malnutrition, and requirement of supportive care. The predictors of progression to septic shock were abnormal leukocyte count, culture positivity, and severe acute malnutrition.

Beta-thalassemia major complicated by intracranial hemorrhage and critical illness polyneuropathy.

Intracranial hemorrhage (ICH) is rarely seen in patients with thalassemia. A seven-year-old male, known case of beta-thalassemia major, on irregular packed cell transfusions (elsewhere) and non-compliant with chelation therapy, presented with congestive cardiac failure (Hb-3 gm/dl). He received three packed red cell transfusions over 7 days (cumulative volume 40 cc/kg). On the 9th day, he developed projectile vomiting and two episodes of generalized tonic-clonic convulsions with altered sensorium. He had exaggerated deep tendon reflexes and extensor plantars. CT-scan of brain revealed bilateral acute frontal hematoma with diffuse subarachnoid hemorrhage (frontal and parietal). Coagulation profile was normal. CT-angiography of brain showed diffuse focal areas of reduced caliber of anterior cerebral, middle cerebral, and basilar and internal carotid arteries (likely to be a spasmodic reaction to subarachnoid hemorrhage). He required mechanical ventilation for 4 days and conservative management for the hemorrhage. However, on the 18th day, he developed one episode of generalized tonic-clonic convulsion and his sensorium deteriorated further (without any new ICH) and required repeat mechanical ventilation for 12 days. On the 28th day, he was noticed to have quadriplegia (while on a ventilator). Nerve conduction study (42nd day) revealed severe motor axonal neuropathy (suggesting critical illness polyneuropathy). He improved with physiotherapy and could sit upright and speak sentences at discharge (59th day). The child recovered completely after 3 months. It is wise not to transfuse more than 20 cc/kg of packed red cell volume during each admission and not more than once in a week (exception being congestive cardiac failure) for thalassemia patients.

When potion becomes poison! A case report of flecainide toxicity.

We report a 48-day-old female infant, who developed cardiac conduction abnormalities and seizures secondary to supratherapeutic doses of oral flecainide. Flecainide was started in this infant for treatment of supraventricular tachycardia. The drug was withdrawn with successful normalization of the QRS complex and no further recurrence of seizures. The Naranjo probability score for adverse drug reaction was 8, making the causality "probable." The case restates an important message that physicians should be aware of the side effects of the drugs that they prescribe, especially of those drugs which have a narrow therapeutic window.

"FISHed" out the diagnosis: A case of DiGeorge syndrome.

Our patient presented with congenital heart disease (CHD: Tetralogy of Fallot), hypocalcemia, hypoparathyroidism, and facial dysmorphisms. Suspecting DiGeorge syndrome (DGS), a fluorescence in situ hybridization (FISH) analysis for 22q11.2 deletion was made. The child had a hemizygous deletion in the 22q11.2 region, diagnostic of DGS. Unfortunately, the patient succumbed to the heart disease. DGS is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations. This case stresses the importance of a detailed physical examination and a high index of suspicion for diagnosing this genetic condition. Timely diagnosis can help manage and monitor these patients better and also offer prenatal diagnosis in the next pregnancy.

A rare case of nephrotic syndrome: 'nailed' the diagnosis.

An 18-month-old female child presented to us with clinical features suggestive of nephrotic syndrome. Her physical examination and detailed family history highlighted the familial occurrence of abnormal nails, suggesting a diagnosis of the Nail-Patella syndrome. Nail-Patella syndrome is a rare cause of nephrotic syndrome in children. This case highlights the importance of a detailed history, including pedigree and a thorough examination of the patient.

Colistin: re-emergence of the 'forgotten' antimicrobial agent.

The treatment of the emerging multidrug resistant (MDR) gram-negative organisms is a challenge. The development of newer antibiotics has recently slowed down. This has led to the re-emergence of the 'old forgotten' antibiotic "Colistin", whose use had almost stopped (after 1970's) due to the high incidence of nephrotoxicity and neurotoxicity. Colistin (polymyxin E) is a polypeptide antibiotic belonging to polymyxin group of antibiotics with activity mainly against the gram-negative organisms. Use of colistin has been increasing in the recent past and newer studies have shown lesser toxicity and good efficacy. Colistin acts on the bacterial cell membrane resulting in increased cell permeability and cell lysis. Colistin can be administered orally, topically, by inhalational route, intramuscularly, intrathecally, and also intravenously. Parenteral Colistin (in the form of colistimethate sodium) has been used to treat ventilator-associated pneumonia (VAP) and bacteremia caused by MDR bacteria such as Pseudomonas aeruginosa, Klebsiella pneumoniae, and Acinetobacter baumannii. Inhaled Colistin is used for treating pneumonia/VAP due to MDR gram-negative organisms and also used prophylactically in patients with cystic fibrosis. This manuscript is a brief review of Colistin and its clinical applications in the pediatric population.

An unusual cause of central cyanosis in a nine-year-old boy.

Pulmonary arteriovenous malformations are rare vascular anomalies which rarely present in childhood. We discuss a nine-year-old male child who presented with the classical triad of exertional dyspnea, cyanosis and clubbing since six years of age. Pulmonary arteriovenous malformation was suspected on chest radiography and was later confirmed on computed tomography scan. A bubble contrast echocardiography showed the presence of an extracardiac shunt. Pulmonary angiography was done to delineate the anatomy of the pulmonary vasculature and to plan embolization. The child has undergone two sittings of transcatheter coil embolization with improvement in oxygenation.