neuroacanthocytosis in two brothers: an ultra-rare cause of movement disorder

Neuroacanthocytosis in Two Brothers: An Ultra-rare Cause of Movement Disorder

We report a rare genetic disorder case of neuroacanthocytosis with clinical profile (oro-lingual-facial abnormal involuntary movements, neuropathy) and typical magnetic resonance findings (cerebral atrophy, bilateral caudate nuclei atrophy with dilated anterior horns of the lateral ventricles), positive family history in his brother and acanthocytosis in peripheral blood smear.

Neuroacanthocytosis: a rare inherited movement disorder.

The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease. The inheritance is usually autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. We report here a young man who presented with choreo-at...

Progressive neuroacanthocytosis in brothers: a case report.

Choreoacanthocytosis, more broadly called neuroacanthocytosis, is a rare neurodegenerative disorder usually inherited as an autosomal recessive trait. It is one of the neuroacanthocytosis syndromes characterized by neurological problems and acanthocytosis. Symptoms typically become apparent between the ages of 25 and 45. The disorder may be characterized by chorea, dystonia, a buckling gait, ti...

TWO CASES OF TYROSINEMIA TYPE II, AND ITS RARE OCCURRENCE IN TWO BROTHERS

Tyrosinemia type II is a rare autosomal recessive disorder wich can present itself with recurrent epithelial keratitis, hyperkeratotic skin lesions and mental retardation. This article reports the rare occurrence of this disease in both offsprings (two brothers) of a family (consanguinous'marriage) who were managed with a lowprotein diet and a special regimen.

Congental Glucose- Galactose Malabsorption a Rare Cause of Diarrhea in Infancy Period: Report of Two Cases

Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder.

BACKGROUND Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. CASE CHARACTERISTICS Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation. OUTCOME Both patients were given creatine monohydrate, L-arginin...