Abidi x-linked mental retardation syndrome

An X-linked inherited syndrome caused by duplication or triplication of the gene encoding methyl-CpG-binding protein-2 (MECP2). It is characterized by mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections.

Disease Alternative Name

mecp2 duplication syndrome

lubs x-linked mental retardation syndrome

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A case of Abdominal epilepsy *Chief Complaints* Loss of consciousness one episode Pain abdomen and loose stools *History* A female patient 25 year old came to the OPD with complaints of loss of consciousness after an episode pf loose stools prior to which she had severe crampy abdominal pain. Symptoms lasted for about 3-4 min witnessed by her mother.No h/o tonic clonic movements. No h/o fever headache giddiness, visual disturbance or ENT symptoms No post episode headache limb weakness Known case of IBS on diet.Hypothyroid on 25 mcg Thyronorm OD.. *Vitals* Normal *Investigations* EEG normal.MRI brain small nodular subependymal heterotopia adjacent to the atrium of right lateral ventricle. *Physical Examination* Nothing significant *Diagnosis* Abdominal Epilepsy *Management* Started on Tab Carbamazepine 300 mg incremental dosage
Dr. Naga Tanooj
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