Polymicrogyria and motor neuropathy in Micro syndrome.

Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation. We report on polymicrogyria and motor neuropathy in a patient with Micro syndrome. These findings provide new insights into developmental defects underlying motor and mental disabilities.

Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.

Adenylosuccinase deficiency, an autosomal recessive inborn error of purine synthesis, was first described in 1984 by Jaeken and Van den Berghe (reviewed in J Inher Metab Dis 20;1997:193). The cardinal features are variable psychomotor delay often accompanied by epilepsy and autistic features. Diagnosis is made by detection of abnormal purine metabolites in body fluids. We report a girl who presented with early onset epilepsy, associated with acquired microcephaly and severe psychomotor retardation, as the most prominent symptoms.

[Total thyroidectomy in a young girl presenting C cell hyperplasia at the time of a family screening for medullary carcinoma of the thyroid gland]. / Thyroïdectomie totale chez une fillette présentant une hyperplasie des cellules C dans le cadre d'un dépistage familial de carcinome médullaire de la thyroïde.

The authors report on the case of a 5,8 year-old girl whose father died of medullary thyroid carcinoma. When she was 4,5 year-old, her physical examination was normal but plasma calcitonin and katacalcin (PDN-21) levels were abnormally high in response to pentagastrin infusion. Total thyroidectomy was performed and immunohistochemical staining showed confluent C-cell hyperplasia. No recurrence occurred in this patient over four years on follow-up.

Progressive tubulointerstitial nephropathy with hepatic involvement in an infant.

We describe an infant with renal and liver disease who died at the age of 10 months from chronic renal failure. Hepatosplenomegaly was present along with biochemical findings of cholestasis and cytolysis. The diagnosis of tubulointerstitial nephropathy with cortical microcysts associated with hepatic fibrosis was based upon laboratory, radiological, and histological data. This rarely described disorder is characterized by an early clinical onset and unfavourable progression to end-stage renal failure before the age of 2.

[Deletion of the long arm of chromosome 18, primary hypothyroidism, Biermer's anemia and IgM hypogammaglobulinemia]. / Délétion du bras long du chromosome 18, hypothyroïdie primaire, anémie de Biermer et hypogammaglobulinémie de type IgM.

We report the case of an adolescent girl who presents with the 18q-syndrome, primary hypothyroidism, pernicious anemia and IgM hypogammaglobulinemia. Her karyotype was performed during infancy because of malformations and showed deletion of the long arm of chromosome 18. The patient had been treated with levothyroxine (Elthyrone) since age 13 when primary hypothyroidism was documented. A close hematological follow-up was then undertaken due to the presence of anti-parietal cell antibodies. A megaloblastic anemia of sudden offset led to the diagnosis of pernicious anemia by age 16, which was confirmed by a positive Shilling's test. Recently, the patient was found to have antimicrosome antibodies and moderate IgM hypogammaglobulinemia.