Brain calcinosis and seizures in an adolescent boy.

The article focuses on the manifestation of cerebral calcification in an adolescent boy. Cerebral calcification, which is detected using computed tomography, is usually associated with disorders like sporadic and heredofamilial entities. The Patient was rushed to the hospital after his mother observed that he have altered behavior and generalized tonic-clonic seizures. He was started on intravenous calcium supplementation, phosphate binder and vitamin D supplementation and during later observations, he was found to have developed according to his age

Cerebral Sinus Venous Thrombosis due to Asparaginase Therapy

We report a 9-year-old boy with acute lymphoblastic leukemia (ALL) in high-risk group who suffered from left sided focal seizures and ipsilateral hemiparesis during his induction with Asparaginase chemotherapy. Superior sagittal sinus thrombosis and right frontal hemorrhage were demonstrated on brain magnetic resonance imaging (MRI) scans . Anticoagulation was initiated with unfractionated heparin and switched to low molecular weight heparin after 3 weeks and continued for 6 months. At one-year followup, he had complete response to chemotherapy for ALL, with residual mild left hemiparesis, and his MRI scans revealed recanalized venous sinuses. The case highlights the importance of considering cerebral venous thrombosis as a complication of Asparaginase therapy

Clinical profile and treatment of infantile spasms using vigabatrin and ACTH - a developing country perspective

Background: Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment. This study describes the comparison of their efficacy in a large series of Patients with infantile spasms from Pakistan. Methods: All Patients with infantile spasms who presented to Aga Khan University Hospital, Karachi, Pakistan from January, 2006 to April, 2008 were included in this study. Inclusion criteria were clinical symptoms of infantile spasms, hypsarrythmia or modified hyparrythmia on electroencephalography, at least six months of follow-up period and receipt of any of the two drugs mentioned above. The type of drug distribution was random according to the availability, cost and ease of administration. Results: Fifty six cases fulfilled the inclusion criteria. 62.5% were males. Mean age at onset of seizures was 5 +/- 1.4 months. Fifty two (92.8%) Patients demonstrated hypsarrythmia on electroencephalography. 64.3% cases were identified as symptomatic while 19.6% were cryptogenic and 16.1% were idiopathic. Eighteen Patients received ACTH while 38 Patients received Vigabatrin as first line therapy. Initial response to first line therapy was similar (50% for ACTH and 55.3% for Vigabatrin). Overall, the symptomatic and idiopathic groups responded better to Vigabatrin. The relapse rate was higher for ACTH as compared to Vigabatrin (55.5% vs. 33.3%) when considering the first line therapy. Four Patients evolved to Lennox-Gastaut variant, all of these Patients had initially received Vigabatrin and then ACTH. Conclusion: Vigabatrin and ACTH showed no significant difference in the initial treatment of infantile spasms. However, Patients receiving ACTH were 1.2 times more likely to relapse as compared to the Patients receiving Vigabatrin when considering monotherapy. We suggest that Vigabatrin should be the initial drug of choice in Patients presenting with infantile spasms. However, larger studies from developing countries are required to validate the therapeutic trends observed in this study

Cerebral Sinus Venous Thrombosis due to Asparaginase Therapy

We report a 9-year-old boy with acute lymphoblastic leukemia (ALL) in high-risk group who suffered from left sided focal seizures and ipsilateral hemiparesis during his induction with Asparaginase chemotherapy. Superior sagittal sinus thrombosis and right frontal hemorrhage were demonstrated on brain magnetic resonance imaging (MRI) scans . Anticoagulation was initiated with unfractionated heparin and switched to low molecular weight heparin after 3 weeks and continued for 6 months. At one-year followup, he had complete response to chemotherapy for ALL, with residual mild left hemiparesis, and his MRI scans revealed recanalized venous sinuses. The case highlights the importance of considering cerebral venous thrombosis as a complication of Asparaginase therapy

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. We have recently reported a suspected autosomal recessively inherited syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia in cases without environmental Mn exposure. Whole-genome mapping of two consanguineous families identified SLC30A10 as the affected gene in this inherited type of hypermanganesemia. This gene was subsequently sequenced in eight families, and homozygous sequence changes were identified in all affected individuals. The function of the wild-type protein and the effect of sequence changes were studied in the manganese-sensitive yeast strain Δpmr1. Expressing human wild-type SLC30A10 in the Δpmr1 yeast strain rescued growth in high Mn conditions, confirming its role in Mn transport. The presence of missense (c.266T>C [p.Leu89Pro]) and nonsense (c.585del [p.Thr196Profs∗17]) mutations in SLC30A10 failed to restore Mn resistance. Previously, SLC30A10 had been presumed to be a zinc transporter. However, this work has confirmed that SLC30A10 functions as a Mn transporter in humans that, when defective, causes Mn accumulation in liver and brain. This is an important step toward understanding Mn transport and its role in neurodegenerative processes