A case of down syndrome with basal ganglia calcification

Sekiz yasında, Down sendromlu, erkek hasta pnömoni ve solunum yetmezligiyle ÇocukYogun BakımÜnitesine kabul edildi. Izleminde tremor, strabismus, idrar retansiyonu ve klonus fark edildi. Bu nörolojik bulgular için çekilen bilgisayarlı beyin tomografisinde bilateral bazal gangliyon kalsifikasyonu gösterildi. Ayrıca nörolojik bulgular kusmalarını önlemek amacıyla baslanan metoklopramide baglandı. Hastanın bazal gangliyon kalsifikasyonunun TORCH, metabolik ve endokrin nedenlere baglı olmadıgı gösterilerek Down sendromuna baglı oldugudüsünüldü.Eight-year-old boy with Down syndrome was accepted to The Pediatric Intensive Care Unit for pneumonia and respiratory failure. Tremor, strabismus, urinary retantion and clonus were observed during his hospitalization. Bilateral basal ganglia calcification was demonstrated by computerized tomography neurologic findings were included to be due to metoclopramid which had been begun for vomiting. Bilateral basal ganglia calcification was decided to be due toDownsyndrome after excludingTORCH,metabolic and endocrin causes

Endothelial Protein C Receptor and Pediatric Arterial Stroke

Objective: The aim of this study was to investigate the endothelial protein C receptor (EPCR) gene A3 haplotype and plasma soluble EPCR (sEPCR) levels in Turkish pediatric arterial stroke patients. Materials and Methods: We analyzed 44 pediatric arterial stroke patients and 75 healthy controls. Following DNA isolation, genotyping of the A3 haplotype was determined via PCR and RFLP. Additionally, fasting sEPCR levels were determined via ELISA. Results: There wasn’t a significant difference in the sEPCR level between the control and patient groups, although the sEPCR level was higher in the patient group. We didn’t observe a difference in the distribution of the CC and CG/GG genotypes between the control and patient groups. Conclusion: Further study on sEPCR levels at the onset of pediatric stroke is needed in order to reach a more definitive conclusion

CASE REPORT - Hyponatremia as a cause of prolonged seizures in a child with sickle cell anemia

We report a successful outcome on recurrent hyponatremic seizures, treated with agressive sodium replacement therapy in a 12-year-old girl with sickle cell anemia. The cause of her hyponatremia was probably tubular damage due to vaso-occlusive crisis. We achieved rapid correction in neurologic findings, serum sodium level and urinalysis with sodium replacement and fluid therapy in this patient. We excluded stroke based on the findings in cranial magnetic resonance imaging. We conclude that severe seizures found in sickle cell anemia may result from hyponatremia that can be treated by sodium replacement therapy. (J Pediatr Neurol 2004; 2(4): 231-233)

Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene

Muscle–eye–brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more suitable with the diagnosis of Walker–Warburg syndrome. However, the same mutation resulted in a less severe form of MEB in the older sibling, who is 14 years old. These two cases suggest that POMGnT1 mutations may cause MEB disease with different phenotypes even in the same family