Dorfman-Chanarin syndrome.

A four-year-old girl was brought to the dermatology outpatient department with scaling all over the body since birth. She had history of episodic vomiting and abdominal distension. A dermatological diagnosis of lamellar ichthyosis was made. Abdominal examination revealed a nontender hepatomegaly, fatty liver on ultrasonography and deranged liver function tests. Peripheral blood smear showed lipid vacuoles in the granulocytes consistent with Jordans' anomaly. Similar lipid vacuoles were seen in the basal layer in skin biopsy. An inflammatory infiltrate, moderate fibrosis in the portal tract and diffuse severe fatty change in hepatocytes were seen in liver biopsy. The patient was diagnosed as a case of Dorfman-Chanarin syndrome.

Fatty acid oxidation disorder as a cause of sudden infant death syndrome (SIDS)--a case report.

Although the cause of sudden infant death syndrome (SIDS) remains unknown, extensive studies over the last 10 years have begun to shed some light on this family tragedy. 5% of all cases of SIDS are caused by fatty acid oxidation disorders. We report a case of fatty acid oxidation disorder causing SIDS.

A rare cause of steatohepatitis.

We present a rare case of steatohepatitis due to neutral lipid storage disorder in a 1.5-year-old male presenting with intermittent fever, hepatomegaly and dark-coloured urine. On examination, there was ichthyosis involving both the limbs. Liver biopsy showed steatohepatitis. The peripheral blood smear revealed fat vacuoles in the cytoplasm of leucocytes, characteristic of the Dorfman-Chanarin syndrome. Awareness of this condition helps in prompt diagnosis and avoids unnecessary further investigations.

Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases.

Three infants with documented mitochondrial fatty acid oxidation disorders are described in this report. Case 1. Carnitine/acylcarnitine translocase deficiency. (CACT) (OMIM 212138) A two-day-old male developed sudden cardiac arrest 48 hours postpartum, with a previous history of early death (day 2) in siblings with a history of parental consanguinity; somnolence, inactivity, refusal to suck within 24 h, hepatomegaly, persistent hypoglycemia, hypocalcemia, hyperkalemia and severe metabolic acidosis prior to cardiac arrest. Dried blood spots by tandem mass spectrometry demonstrated 10 x elevation of palmitoylcarnitine, moderate elevation of oleylcarnitine, steroylcarnitine and myristoylcarnitine. Case 2. Medium chain acyl CoA dehydrogenase (MCAD) deficiency. (OMIM 212139) A six-week-old male infant, developed sudden cardiac arrest after contacting a viral illness, resuscitated successfully in the first episode, only to succumb during the second episode, 2 weeks apart. Plasma acylcarnitine via tandem mass spectrometry was reported normal; however, urine organic acids via gas liquid chromatography and mass spectrometry demonstrated characteristic metabolites consistent with MCADD. Case 3. Carnitine deficiency, systemic primary. (CDSP) (OMIM 212140) A one-year-old girl with progressive dyspnea since birth and a history of parental consanguinity. Severe dilated cardiomyopathy with episodes of cardiac decompensations, hepatomegaly, anemia, generalized hypotonia, but no hypoglycemia were demonstrated prior to cardiac arrest. Extremely low carnitine level noted in dried blood spots via tandem mass spectrometry.