Congenital Rickets Presenting as Refractory Respiratory Distress at Birth

Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.     

Nephrotic Range Protienuria as a Presenting Feature of Classical Nephropathic Cystinosis

Patients with renal tubular acidosis (RTA) usually have tubular or low molecular weight proteinuria. The authors present a rare case of a 6-y-old girl with Fanconi syndrome secondary to cystinosis, who at presentation had nephrotic range proteinuria along with rickets and failure to thrive. Although hypoalbuminemia and massive proteinuria are characteristics of nephrotic syndrome, there are other conditions which can present with massive proteinuria.     

Refractory Anemia as a Presenting Feature of Microscopic Polyangitis: A Rare Vasculitis in Children

Microcytic anemia refractory to usual supplementation is an important clue to an alternative diagnosis. Accompanying pulmonary and renal involvement during the disease course suggests a multisystem disease. Small-vessel vasculitis should be suspected in any patient who presents with a multisystem disease that is not caused by an infectious or malignant process. Among these, antineutrophilic cytoplasmic antibodies (ANCA)-associated vasculitis is a distinct subclass involving anti-neutrophil cytoplasmic antibody (ANCA) as the common pathogenesis. Microscopic polyangiitis is a rare form of such vasculitis in children characterized by pulmonary-renal syndrome with pauci-imune rapidly progressive glomerulonephritis and a poor outcome.     

A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis

Background

Lipoid congenital adrenal hyperplasia, is the rarest and usually the most severe form of adrenal steroidogenic defect,which may presents as infantile cholestasis.

Case Presentation

Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment.

Conclusion

Congenital adrenal hyperplasia as one of the causes of neonatal cholestasis should be kept in mind, whenever there are also electrolytes abnormalities.     

Incontinentia Pigmenti Presenting as Encephalopathy

Incontinentia Pigmenti is a rare neurocutaneous disorder that may present with neurological symptoms in early infancy in addition to characteristic skin rashes. We report a two-mo-old girl presenting with a rash and encephalopathy. Magnetic resonance imaging of brain showed hemorrhagic infarcts. First we thought baby was suffering from a skin infection with meningo-encephalitis and later with development of characteristic skin lesions, neuroimaging and skin biopsy changes we reconsidered our diagnosis as Incontinentia pigmenti.     

Stenting of Bilateral Arterial Ducts in Complex Congenital Heart Disease

Bilateral arterial ducts serving nonconfluent pulmonary arteries is a very rare pattern of pulmonary blood flow in congenital heart disease with pulmonary atresia. In this setting, neonatal ductal closure might result in abrupt pulmonary hypoperfusion and life-threatening systemic hypoxia, thereby indicating emergent surgical palliation or repair. However, percutaneous arterial duct stenting might be an alternative to surgery, especially in high-risk patients. This article reports on two critical neonates with complex heart disease and discontinuous pulmonary arteries dependent on bilateral arterial ducts who successfully underwent transcatheter ductal stenting as first-step palliation toward lower-risk corrective surgery.     

Axonal Dystrophy Presenting as the Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a neonatal intestinal syndrome, characterized by defective peristalsis and bladder dilatation, refractory to pharmacological treatment. Examinations of bowel and bladder have failed to demonstrate a pathological explanation for this syndrome. We describe a 7-month-old female infant with MMIHS who had generalized axonal dystrophy of her central, peripheral, and autonomic nervous systems, which may provide a neuropathological explanation for some cases of MMIHS.     

Growth Failure as the Presenting Symptom of Crohn's Disease

Short stature is a common symptom of Crohn's disease in children, but it is rarely the chief complaint. We have encountered 5 pati?nts whose major complaint was stunted growth and poor weight gain. Only one patient had moderately severe diarrhea, abdominal pain and weight loss, while the remaining patients exhibited mild abdominal symptoms elicited only by probing questions. Bone age was retarded in all. Sedimentation rate was elevated in 3 patients, and 4 had anemia. Small bowel series revealed typical findings of Crohn's disease in all. Two patients had surgical treatment, and 3 received nutritional supplement and steroid therapy. It is concluded that in the patient with stunted growth, careful history taking is essential. A work-up to rule out inflammatory bowel disease is indicated, especially if an elevated sedimentation rate and/or anemia are present, even in the absence of clear-cut abdominal compliants.     

Vomiting as the Main Presenting Symptom of Acute Asthma

ABSTRACT. Vomiting as a dominant symptom in a patient with acute asthma is reported. The traditionally recognized triad of cough, tachypnea and wheezing were absent or trivial whenever this patient presented with persistent vomiting. A careful history, laboratory evaluation and a course of bronchodilators eventually ascertained that the episodes of vomiting were due to attacks of acute asthma. It is suggested that acute asthma be included in the differential diagnosis of recurrent and/or severe vomiting in children.     

Malignant Rhabdoid Tumor of the Kidney Presenting as Intraocular Metastasis

A newborn infant presented with intraocular tumor that was clinically diagnosed as retinoblastoma and treated by exenteration of the globe. Within a few weeks however, a large abdominal mass was noted, which was found to involve the left kidney and right lobe of liver. Pathologic evaluation of the intraocular mass as well as fine-needle aspiration biopsy of the abdominal mass revealed features of malignant rhabdoid tumor. To our knowledge this is the first case of malignant rhabdoid tumor of the kidney with such an unusual clinical presentation.