RATIONALE Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolon...

BACKGROUND Bilateral optic nerve hypoplasia (BONH) is often associated with other central nervous system midline abnormalities (septo-optic dysplasia). Hormonal dysfunction, caused by anterior (cortisol) and posterior (ADH) pituitary involvement, can be sudden, severe, and life threatening. METHODS Case series. Three cases of septo-optic dysplasia (SOD) presenting as infantile infection with ...

We report a case of a male newborn who was evaluated due to persistent jaundice. Evaluation showed hypothyroidism associated with infantile hemangioma of the liver. Euthyroidism and regression of the hepatic hemangiomas were obtained with L-thyroxin and Propranolol treatment. This case emphasizes the importance of screening for hypothyroidism in patients with neonatal hemangiomatosis.

Infantile pyknocytosis is a rare cause of neonatal jaundice and hemolytic anemia. We report on two cases in twin girls that were diagnosed on peripheral blood smear reading. Pyknocytosis should be considered in cases of early unexplained severe hemolytic anemia, and systematic peripheral smear review performed. Its management consists of phototherapy and RBC transfusion.

AIM The aim of this study is to find-out the possible etiologies in Iranian infants less than three months in Shiraz, South of Iran. BACKGROUND Cholestatic jaundice most probably occurs due to a pathological condition and the most frequent causes in early infancy are neonatal hepatitis and biliary atresia. Early diagnosis and treatment of infantile cholestasis can improve prognosis of liver d...

Hepatic tumours are relatively rare in children, accounting for 1% 4% of all paediatric solid tumors, commonest amongst them are hepatoblastoma, neuroblastoma, and vascular tumors (hemangioendothelioma/haemangiomas). Infantile Hepatic hemangioendothelioma (IHHE) is classically characterised by hepatomegaly, jaundice, congestive cardiac failure with high cardiac output, skin haemangiomas, haemol...

Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. Alpha-1 antitrypsin deficiency is the most common genetic caus...

Citrin deficiency is an autosomal recessive disorder caused by mutation in the SLC25AJ3 gene. It has two major phenotypes: adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestatic caused by citrin deficiency (NICCD). NICCD is characterized by neonatal/infantile-onset cholestatic hepatitis syndrome associated with multiple amino acidemia and hypergalactosemia. NICCD is sel...

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 hyperp...