Congenital abnormalities are described as anomalies involving structure, metabolic or endocrine processes, or genetic coding that is present in the newborn at the end of the pregnancy. Neural tube defects are the most common abnormality of the central nervous system, probably second only to cardiac defects when considering major congenital anomalies. Representing a major public health concern, ...

A 22-year-old male presented with acute onset vomiting, diarrhea, abdominal pain and altered sensorium. He had a history of acute alcohol intake (locally made with solvent) a day prior to the presentation. Biochemical investigations revealed severe metabolic acidosis. Diagnosis of methanol poisoning was made on the basis of history and biochemical abnormality. Magnetic resonance imaging (MRI) d...

SUMMARY Morphometry and spectroscopy were performed in 3 patients with fragile X-associated tremor/ataxia syndrome (FXTAS). The brain stem and cerebellum were atrophic and satisfied criteria for olivopontocerebellar atrophy in 2 patients. However, the vermis was relatively spared and the basis pontis maintained its oval shape. The only spectroscopic abnormality was a decrease of the pontine N-a...

Pantothenate kinase 2 deficiency (previously known as Hallervorden-Spatz disease) is an unusual metabolic disorder characterized by progressive extrapyramidal dysfunction and dementia. A 27-year-old Caucasian presented with a major depression disorder and social phobia since adolescence. Patient had marked paranoia, auditory hallucinations, extrapyramidal dysfunction, poor memory, and gait abno...

Polymorphonuclear leukocytes (PMNL) from two individuals with congenital Pelger-Huet anomaly (PHA) were examined to determine whether functional or metabolic defects accompanied the known morphological abnormality. No abnormalities of the PHA cells, as compared to normal control cells, were found when tested for quantitative leukocyte enzyme activities, nitroblue tetrazolium reduction, hexose m...

Basal ganglia calcification was found as an incidental finding in 42 out of 7000 patients who underwent computed tomography. The calcification showed on plain skull radiography when the maximum density on computed tomography exceeded 100 Hounsfield units. The 26 patients with basal ganglia calcification detected on computed tomography who were available for follow-up, were investigated with mat...