Premature loss of permanent teeth in Allgrove [4A] syndrome in two related families

Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder. We present various manifestations of this syndrome in two related families each with two affected siblings in which several members had symptoms including reduced tear production, mild developmental delay, achalasia, neurological disturbances and also premature loss of permanent teeth in two of them. The importance of this report is dental involvement [loss of permanent teeth] in Allgrove syndrome that has not been reported in literature

Status epilepticus as a presenting sign of reversible posterior leukoencephalopathy syndrome in a liver transplant recipient

Reversible posterior leukoencephalopathy syndrome [RPLE] is an increasingly recognized disorder, most commonly associated with immunosuppressive and cytotoxic agent, malignant hypertension and toxemia of pregnancy. Neurological symptoms are headache, mental and visual disturbance, and seizures. Brain MRI findings are symmetrical bilateral hyper intense areas of occipital and parietal lobes in T2-weighted magnetic resonance [MR] images. This finding is reversible with prompt successful treatment which may take days to weeks for full reversal. We observed a case of status epilepticus which occurred 32 days after liver transplantation in a patient on regimen consisting of Tacrolimus [FK 506]. He had no history of neurologic disease or metabolic abnormalities. Typical findings of RPLE were present on brain MRI. The recurrence of seizures terminated after a few hours with adding Na-valproate to Phenytoin, Phenobarbital and Midazolam. The radiological finding of brain MRI gradually diminished after several weeks. A physician should be alert of seizures during early post transplant period of liver transplantation. He should bear in mind the diagnosis of RPLE and consider discontinuation of immunosuppressive drugs

Auditory evaluation of high risk newborns by automated auditory brain stem response

The objective of this study was to assess the prevalence of hearing impairment by automated auditory brain stem response [AABR] in newborns admitted to an intensive and intermediate care unit and to analyze the associated risk factors. An observational cross-sectional study was conducted between January 2005 and January 2006. 834 newborns [62% boys and 38% girls] were assessed. Newborns had a mean [SD] gestational age of 36 [2.1] weeks with a mean [SD] birth weight of 2950 [1250] grams. The presence of the following neonatal pathologies was investigated: craniofacial malformations, hyperbilirubinemia [total bilirubin 20 mg/dl for all newborns], neonatal asphyxia, congenital infections, septicemia, birth weight [