Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features.

We present four patients, two pairs of siblings, with glutaric aciduria type I (GA I). All four had undetectable glutaryl-CoA dehydrogenase activity on fibroblast culture and massive urinary excretion of glutaric acid. All had serum carnitine deficiency at time of diagnosis except one patient who was diagnosed neonatally. All had a unique pattern of frontotemporal atrophy on CT. Remarkably, in both sibling pairs, one child was asymptomatic. This suggests that the biochemical markers hitherto identified with GA I do not encompass the entire scope of the metabolic or enzymatic abnormalities. Alternatively, as yet unidentified mechanisms might spare or delay the destructive process.

Stroke in a patient with hemolytic-uremic syndrome with a good outcome.

We report a child with HUS complicated by stupor, hemiparesis, expressive aphasia and focal seizures. CAT scan of the brain demonstrated 2 large cerebral non-hemorrhagic infarcts. Despite the severe neurological involvement the child eventually made a good recovery.

[Inborn errors of metabolism: lessons from a clinical case].

Dramatic advances in recent years in the diagnosis and treatment of inborn errors of metabolism (IEM) make it imperative for the physician to be both aware of their occurrence and acquainted with their clinical presentations. Many may present with symptoms and signs common to sick infants, such as refusal to feed, vomiting and convulsions. Failure to include IEM in the differential diagnosis may have grave consequences, because only prompt recognition and appropriate treatment of a metabolic crisis can help prevent irreversible brain damage or death. We describe a 3-week-old female infant, eventually diagnosed as having an IEM (3-hydroxy-3-methyl-glutaric aciduria), who was admitted to various hospitals and died during her last admission. We focused on the clinical and laboratory findings of each of the first 2 admissions which might have provided clues to the true nature of the illness had the clinicians been aware of the possibility of IEM. Patients with IEM are generally managed in specialized centers; however, the responsibility for initial recognition and immediate treatment of a metabolic emergency lies with the primary physician. The purpose of our case presentation and the discussion of the lessons derived from it, is to prompt the clinician to an awareness and understanding of a subject that used to be considered reserved for specialists. In fact, all that is needed is clinical alertness and the performance of certain well-focused, simple laboratory tests for IEM.

Glutaric aciduria type I. Brain CT features and a diagnostic pitfall.

Serial CT findings in an infant with glutaric aciduria type I (GA-I) are reported. The major CT features were dilatation of the insular cisterns, regression of the temporal lobes, with "bat wings" dilatation of the Sylvian fissures and hypodensity of the lenticular nuclei. CT changes preceded the onset of symptoms by 3 months. An improvement in the temporal lobe atrophy was seen after a period of treatment, coinciding with marked clinical improvement. A peculiar feature was the presence of external hydrocephalus, which diverted the attention from manifestations of the primary disease and thus constituted a diagnostic pitfall. The delineation and recognition of the characteristic radiologic manifestations of GA-I are essential for allowing an adequate radiologist/clinician interaction in diagnosing this inborn error of metabolism.