MPPH syndrome: two new cases.

This report describes 2 additional cases of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, a recently recognized disorder of infants and young children with macrocrania, developmental delay/mental retardation, and often epilepsy. Medulloblastoma, a previously unreported feature in megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, developed in one child at 3 years of age. Although the disorder is presumed to be genetic, the cause of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome has not yet been determined.

Cerebral sinovenous thrombosis in children: another reason to treat iron deficiency anemia.

Iron deficiency anemia is a rare cause of cerebral sinovenous thrombosis in children. We report three cases of cerebral sinovenous thrombosis and iron deficiency anemia treated at Primary Children's Medical Center in Salt Lake City, Utah, between 1998 and 2001. The children were 9, 19, and 27 months old at the time of admission. Hemoglobin levels ranged from 6.6 to 7.0 g/dL, mean corpuscular volume levels from 45 to 56 fL, and platelet counts from 248,000 to 586,000/microL. Magnetic resonance imaging and magnetic resonance venography revealed thrombosis of the straight sinus and internal cerebral veins in all three children, with the addition of the vein of Galen, left transverse and sigmoid sinuses, and upper left internal jugular vein in one child. Recovery ranged from excellent to poor in 3 months to 3 years of follow-up. Four additional cases, ages 6 to 22 months, were found in the English-language literature. Evaluation for prothrombotic disorders was negative in all children, including the current cases. Treatments have included thrombectomy, corticosteroids, mannitol, heparin, low-molecular-weight heparin, warfarin, aspirin, blood transfusion, and iron supplementation, but there is no consensus regarding therapy, other than to correct the anemia and treat iron deficiency. Iron deficiency anemia, a preventable cause of cerebral sinovenous thrombosis, deserves consideration when cerebral sinovenous thrombosis is detected in young children.

The skull and cervical spine radiographs of Tutankhamen: a critical appraisal.

BACKGROUND AND PURPOSE: Tutankhamen, the last pharaoh of the XVIIIth dynasty, died unexpectedly at approximately age 18 years. A cause of death has never been established, but theories that the young king was murdered by a blow to the head have been proposed based on skull radiographs obtained by a team from the University of Liverpool in 1968. We recently had the opportunity to evaluate the skull and cervical spine radiographs of Tutankhamen. The purpose of this study was to report our critical appraisal of the radiographs of Tutankhamen regarding the findings alleged to indicate traumatic death. METHODS: Copies of lateral, anteroposterior, and submental vertex skull radiographs of Tutankhamen were reviewed with special attention to the claims of a depressed skull fracture, intracranial bone fragments, and calcified membrane of a posterior fossa subdural hematoma. A phantom skull was radiographed to reproduce the appearance of the floor of the posterior fossa in the lateral projection. RESULTS: The skull radiographs of Tutankhamen show only postmortem artifacts that are explainable by an understanding of the methods of mummy preservation used at the time of his death. Some findings also relate to trauma inflicted by an autopsy performed in 1925. The alleged calcified membrane of a posterior fossa subdural hematoma is easily reproduced with a skull phantom. CONCLUSION: Our critical review of the skull and cervical spine radiographs of Tutankhamen does not support proposed theories of a traumatic or homicidal death.

Neurodevelopmental outcome for extended cold water drowning: a longitudinal case study.

There is little longitudinal data examining outcome of pediatric near-drowning. Most literature tracks status 5 years or less post insult, focusing primarily on gross neurologic status as opposed to more subtle neurocognitive deficits. The present case tracks the neuropsychological profile of a child who was submerged for 66 min, the longest time documented. Acute medical support was aggressive, and recovery was dramatic, being featured in multiple media reports. Although an article published 6 years after the near-drowning described the child as "recovering completely," the longitudinal profile indicates a pronounced pattern of broad cognitive difficulties, particularly notable for global memory impairment. Neuropsychological test results were significant despite the fact that the patient's recent MRI and MEG were within normal limits. This case demonstrates the need for long-term neuropsychological follow-up of pediatric patients with histories of neurologic injury, as gross neurological examination and MRI and MEG scans may not reveal underlying brain dysfunction.