Journal of child neurology
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Propionic acidemia, an autosomal recessive disorder, is a common form of organic aciduria resulting from the deficiency of propionyl-CoA carboxylase. It is characterized by frequent and potentially lethal episodes of metabolic acidosis often accompanied by hyperammonemia. A wide range of brain abnormalities have been reported in propionic acidemia. ⋯ The 2 events in one patient were associated with a seizure disorder with abnormal electroencephalogram. Brain magnetic resonance imaging showed abnormal basal ganglia and faint temporo-occipital swelling bilaterally. This is probably the first report of visual hallucinations in propionic acidemia and should alert the treating clinicians to look for visual hallucinations in patients with organic acidurias, especially in an unusually anxious child.
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Review Case Reports
Multifocal intraparenchymal Langerhans' cell histiocytosis concomitant with an arachnoid cyst in a child: case report and review of the literature.
Langerhans' cell histiocytosis is a disease usually found in children and characterized by idiopathic proliferation of histiocytes in the reticuloendothelial system. Intracranial Langerhans' cell histiocytosis presenting as multifocal intraparenchymal lesions is very rare. In this article, the authors report on a 4-year-old boy diagnosed with multifocal intraparenchymal Langerhans' cell histiocytosis concomitant with an arachnoid cyst. ⋯ The patient's intracranial hypertension symptoms were alleviated, and the remaining foci were treated by Langerhans' cell histiocytosis-directed standard chemotherapy. At the 8-month follow-up visit, no recurrence of the excised lesion was found, and no change in the size of other lesions was seen. Supratentorial intracerebral lesions with mass effect and enhancement have rarely been described; in this report, the histological features of and therapeutic options for such a case are discussed.