Shwachman-Diamond Syndrome: Are we Missing Many.

Shwachman-Diamond Syndrome (SDS) is a rare inherited disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. It is the most common cause of pancreatic insufficiency in children after cystic fibrosis. We report a child with classical SDS who presented to us predominantly with chronic diarrhea along with delayed growth and neutropenia.

Crohn's disease: disastrous consequences of late diagnosis.

Chronic and recurrent perianal abscess is an uncommon condition in children. Tuberculosis is thought to be the common etiology for such a presentation in India. We report a case of a child with colonic and perianal disease due to Crohn's disease and emphasize the disastrous complication due to delayed diagnosis.

Portal hypertension secondary to Langerhans cell histiocytosis.

We report two children, aged 2 and 2 1/2 years, with multisystem Langerhans cell histiocytosis (LCH). Both were administered chemotherapy, with apparently good response. However, hepatic fibrosis and portal hypertension were detected 5 and 1 1/2 years after therapy, respectively. The first child died after a bout of hematemesis. Hepatic fibrosis can proceed despite apparently successful chemotherapy in LCH.

Non-cirrhotic portal fibrosis in children.

BACKGROUND AND OBJECTIVES: Non-cirrhotic portal fibrosis (NCPF) is an infrequent cause of portal hypertension in children. We report 11 children with NCPF, from among 338 with portal hypertension, seen over 6.5 years. METHODS: The diagnosis was based on patent splenoportal axis on ultrasonography and/or splenoportal venography and liver biopsy showing no evidence of cirrhosis or other diagnosis, in children with portal hypertension. Those with variceal bleed were managed with endoscopic sclerotherapy and/or shunt surgery. RESULTS: The median age was 11 years (range 5 to 14), and 8 were boys. Presentation was with variceal bleed in 6, lump in left upper abdomen in 5 (though all children had splenomegaly) and esophageal varices on endoscopy. The median spleen enlargement was 8.5 cm; 8 also had hepatomegaly. Hypersplenism was present in 7, and two had developed ascites after bleed. Of 6 children presenting with bleed, variceal obliteration was achieved on sclerotherapy (average 5.6 sessions) in 4 while two underwent shunt surgery for associated hypersplenism. After median follow up of 57.5 months (range 12-78) all are alive and well. CONCLUSION: NCPF is an uncommon cause of portal hypertension in Indian children. Presentation with variceal bleed is less common than in adults; sclerotherapy is effective.

Celiac disease: clinical features and diagnostic criteria.

Celiac disease (CD) classically presents between 9-18 months of age but in India there is a significant delay in the onset of symptoms (3-4 years) and the age of presentation (6.8-9.2 years). Failure to thrive, anemia, and muscle wasting are more common in children. Symptomatic CD represents the tip of the iceberg. Clinically there may be overt, silent, latent and potential CD. Modified ESPGAN criteria for diagnosis of CD is based on demonstration of characteristic histological changes in small intestinal biopsy while on gluten, and unequivocal clinical improvement when on gluten free diet. However, in developing countries there are several conditions which can give rise to villous atrophy and using it as a diagnostic criteria may lead to overdiagnosis of CD. IgA antigliadin antibody has a high sensitivity (98%) and specificity (90%) for CD and hence, may be an ideal adjunct to modified ESPGAN criteria in the diagnosis of CD in India.

Choledochal cysts in infants and children.

OBJECTIVE: To study the clinical spectrum and management of choledochal cyst in children below 12 years of age. DESIGN: Descriptive study. SETTING: Tertiary care hospital. METHODS: Twenty three children with choledochal cysts were managed between January 1991 to September 1997 and their clinical details, investigations and management were recorded. Choledochal cyst was diagnosed by ultrasonography and confirmed by ERCP or peroperative cholangioram (POC) Children were treated with antibiotics and/or percutaneous transhepatic biliary drainage if there was cholangitis and subsequently subjected to surgery (excision of the cyst and jejunal loop interposition hepaticoduodenostomy). RESULTS: The median age of these children was 3 years with an almost equal sex ratio. Predominant presentation was jaundice in 18, pain abdomen in 15, fever in 12, and lump abdomen in 9 cases. The classical triad of jaundice, pain and lump was present in only 4 cases. ERCP conducted in 7 and POC in 14 cases yielded positive findings in all. Clinically there were two distinct forms of presentation: (i) infantile form (< or = 1 year) comprised 9 infants which presented with jaundice in all, acholic stool in 6, lump abdomen in 4 but only one had classical triad; and (ii) childhood form (> 1 year) presented with pain abdomen in 12 and jaundice and cholangitis in 9 subjects each. Type I cyst was seen in 20 and type IVa in 3. Two children refused surgery, and the rest underwent surgery. Three infants died after surgery, the remaining 18 were alive and well on follow-up (median 25 months). Secondary biliary cirrhosis was seen in 6, extra hepatic biliary artresia in 2 and congenital hepatic fibrosis in 1 on histology. CONCLUSIONS: Choledochal cysts present in two clinically distinct forms. Infantile form is an important cause of cholestasis of infancy. Early diagnosis and referral is essential to prevent complications and death, and prognosis after surgery is good.

Membranous glomerulonephritis in association with ulcerative colitis.

Glomerulonephritis is a rare association of ulcerative colitis. We report a patient with ulcerative colitis who developed proteinuria due to membranous glomerulonephritis which responded to colectomy.

Gastric stromal tumor: treatment by snare polypectomy.

A patient presenting with hematemesis was detected to have a 3 cm sized pedunculated polyp in the gastric antrum. A snare polypectomy was performed. Histopathology of polyp revealed it to be benign submucosal stromal tumor.

Pancreatico-pleural fistula: successful treatment with octreotide.

A patient with chronic pancreatitis who presented with massive pleural effusion due to pancreatico-pleural fistula is reported. Treatment with octreotide for three weeks healed the fistula and resolved the pleural effusion.

Rapid reversal of manifestations of acquired zinc deficiency in alcoholic cirrhosis with diet therapy.

Features of acquired zinc deficiency syndrome occurred in an alcoholic cirrhotic during hospital stay while he was on parenteral nutrition. Rapid reversal of symptoms occurred with resumption of normal diet without additional zinc supplementation.

Water electrolyte homeostasis in acute bronchiolitis.

Children with acute bronchiolitis frequently require hospitalization and parenteral fluid therapy. Water retention due to impaired renal water excretion has been described in several pulmonary conditions in children. We studied 20 infants (3.6 +/- 2.9 months), hospitalized consecutively for acute bronchiolitis for water and electrolyte changes during the acute stage and compared them to those on recovery. Serum sodium and plasma osmolality, urinary sodium and osmolality were measured in all infants. Ten infants each were assigned alternatively to study body water compartment or renal water handling (water load excretion and free water excretion capacity) on the day of hospitalization and after recovery. Mean ( +/- SD) value of serum sodium of the infants at admission was 132.7 +/- 7.2 mEq/L which increased to 137.1 +/- 5.4 mEq/L on recovery (p < 0.05). Plasma osmolality changed from 284 +/- 14 mOsm/kg at admission to 294 +/- 10 mOsm/kg at recovery (p < 0.05). There was a significant decrease in urinary sodium from 54 +/- 39 mEq/L to 20 +/- 18 mEq/L and urinary osmolality from 415 +/- 213 mOsm/kg to 252 +/- 204 mOsm/kg at admission and at recovery, respectively. All 10 infants showed significant increase in total body water (mean +/- SD; 22.8 +/- 7.5 ml/kg) at admission as compared to that at recovery. The total body water (TBW) excess was mainly in extracellular water compartment (16.3 +/- 3.6 ml/kg). Seven of 10 infants had significant impairment in renal water excretion. Increase in maximum free water clearance of these 7 infants on recovery was 0.69 +/- 0.27 ml/min, i.e., 15 times more than that at admission. It is concluded that bronchiolitis of infancy is characterized by water retention which is caused by impaired renal water excretion. In the management of severe bronchiolitis careful attention to fluid therapy is mandatory; liberal fluid therapy may lead to water intoxication.