Help required in diagnosis and treatment

Mohammad Ali born on 16-11-1989, in hospital after an uneventful delivery at term, immunized (EPI-including measles) and acquired milestones normally. He had a febrile illness (106&#61616;F) with unconsciousness (< 1/2hr) at 10 months age and was discharged after 3 days (no record available)

He remained well till the age of 7-1/2 years when he developed polyuria, polydipsia, diagnosed as a case of central Diabetes Inspidus and was started on Desmopressin (DDAVP) nasal spray and symptoms improved.

About 18 months ago Ali developed lack of interest in surroundings for a few days and became disoriented one week later. DDAVP was stopped but he continued to deteriorate with periods of excessive crying, aggressive behavior, poor recognition and difficulty in speaking. He showed improvement without specific treatment in 2 weeks but speech partially improved later (given enzyme preparation coliacron for 1 month). Three months later, he developed difficulty in walking and became ataxic along with behavior changes (Caprolalia, periods of aggressive behaviors and excessive crying). He was hospitalized. His CT scan, MRI scan and EEG (May 1998) revealed no abnormality.

Later on, he developed scizours, multifocal, with up rolling and twitching of eyes 1 to 2 minute duration, tonic-clonic, 7-8 per day. He was started an anti convulsants (Valproic Acid, Carbamazepine) and was given a diagnosis of Post - Encephalitic Syndrome. He was discharged after 10 days and was added steroids (Solu medrol on alternate days for 2 weeks). His symptoms gradually improved (behavior, recognition, seiznies) but he remained unable to walk.

In June 1999 his scizours frequency increased again and his condition deteriorated (abnormal behavior, poor recognition, inability to sit, difficulty in speaking. He continued on Valproic Acid.

Two months ago, he deteriorated and stopped eating and was on N/G feed for 2 days after that he was able to swallow but could not feed by himself. Since then his condition has been static.

His Diabetes Inspidous settled with the onset of these neurological symptoms without specific treatment. His eye evaluation showed optic atrophy with optic nerve hypoplasia with no K. F. Ring and Cupper studies were normal. Metachromatic granules were positive in urine. His recent MRI scans (15-11-1999) showed extensive desmyelination of deep white matter (possibility of Post - Encephalitic Syndrome?)

His parents are first cousins and 8 siblings (1 son and 7 daughters) all are in good health. There is no significant family history.

Post - Encephalitic Syndrome, white matter degenerative brain disease, Adrenoleucodystrophy, mitochrondrial disease, Landau Klefner Syndrome are being considered in differential diagnosis.

[Kevin Kennedy, Ph.D.]

Dear Ms. Chughtai,

Your son's condition is clearly physiological in nature and is not within the scope of this forum, which focuses on behaviral health issues. I cannot offer you guidance around your son's illness.

[Salman Chughtai (Sally)]

Tell me where can I find help??