Paralysis Episodes in Carbonic Anhydrase II Deficiency.

Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder manifest by osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include growth failure and mental retardation. Complications of the osteopetrosis include frequent bone fractures, cranial nerve compression, and dental mal-occlusion. A hyper-chloremic metabolic acidosis, sometimes with hypokalemia, occurs due to renal tubular acidosis that may be proximal, distal, or more commonly, the combined type. Such patients may present with global hypotonia, muscle weakness or paralysis. We report a case of CA II deficiency with recurrent attacks of acute paralysis which was misdiagnosed initially as Guillian-Barre syndrome.

Vigabatrin versus ACTH in the treatment of infantile spasms.

OBJECTIVE: To compare adrenocorticotropic hormone with vigabatrin as a single mono-therapy for infantile spasms. We studied hospitalization time, clinical response, whether complete or partial, time taken for improvement, and presence or absence of recurrence after stopping the medication. Together with improvement of electroencephalographic changes, and time taken for significant response, neurodevelopmental and cognitive responses in both groups. METHODS: Our study was conducted initially on 36 patients. They were divided randomly into 2 groups. The first group received adrenocorticotropic hormone and 2nd vigabatrin, as a single mono-therapy for infantile spasms. There was a male sex predominance of (1.25:1), with 20 males to 16 females affected. The mean age of onset was 5.2 months. Of the 36 patients, 26 patients (72.2%) were having typical hypsarrhythmia on electroencephalogram and 10 (27.8%) had burst suppression pattern. All 36 patients were having typical spasms. Four patients, all female, were excluded from the study, as their families lived outside Riyadh, and they were not regular on follow up. The remaining 32 patients continued the study. therefore, 16 patients were put in each group randomly. RESULTS: In the first group (adrenocorticotropic hormone group): initial improvement was achieved in 10 infants (62.5%), with median response time of 9 days, at a dose of 20 IU intramuscular daily, in the first 10 days. In the 2nd group vigabatrin: the initial improvement was achieved at 4 days in 9 infants (56.25%) at an average dose of 87mg/kg /day. The response was more appreciated in the secondary group infantile spasms with a known etiology. Side effects were noted in younger age group (5 months or below); 14 patients (78.5%) out of 16 suffered side effects from the adrenocorticotropic hormone group. Side effects in the vigabatrin group were much less, only 4 patients (25%) had some drowsiness, none had visual disturbances. CONCLUSION: Vigabatrin is an effective therapy for infantile spasms. It has shown to be as effective as adrenocorticotropic hormone, with less hospital dependency and milder side effects. As far as this study is concerned, differences in neurodevelopmental outcome are probably due to the underlying etiology. More research may be needed to further enhance the effects on both cognitive function and vision.