Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual inheritance of MoCo deficiency ⁄ maternal uniparental isodisomy for the first time in the literature. At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy.Molybdenum cofactor (MoCo) deficiency (OMIM #252150) is a neonatal onset neurological disorder with autosomal recessive inheritance and rapid, severe neurological deterioration. In patients with MoCo deficiency, disease-causing mutations have been identified in the MOCS1, MOCS2, and GEPH genes.1,2 The majority of patients with this condition exhibit mutations in the MOCS1 gene. 3Under conditions of MoCo deficiency, sulphite accumulates in plasma and serum, crosses the blood-brain barrier, and rapidly triggers neuronal death. 4 We report a male infant with MoCo deficiency whose fetal ultrasound findings at 35 weeks presented as Dandy-Walker variant and detailed mutation analysis revealed maternal uniparental isodisomy. Informed consent was obtained from the patient and his parents. CASE REPORTA term male infant was the second child of non-consanguineous parents. His prenatal ultrasonography showed cerebellar and vermis hypoplasia, enlarged posterior fossa at 35 weeks, and was diagnosed as Dandy-Walker variant (Fig. 1a). He was born to a healthy 31-year-old mother at a local hospital by uncomplicated elective Caesarean section due to previous Caesarean section. Birthweight was 3750g (75th percentile), length 50cm (50th percentile), and head circumference was 35cm (50th percentile). Apgar scores at 1 and 5 minutes were 8 and 9 respectively. Immediately after birth, the infant developed feeding difficulties, poor spontaneous activity, and seizures. He was treated with phenobarbital. No ventilatory support was required. Brain magnetic resonance imaging (MRI) findings on the third day of life showed hypoplasia of the cerebellum and vermis, hypoplasia of the corpus callosum, multiple cystic cavities resembling multicystic encephalomalacia located in the cerebral hemispheres, and Dandy-Walker variant. There was atrophy of the cerebral hemispheres in association with pathological signal increase on T2-weighted images, and the brain stem was thin. Central and peripheral cerebrospinal fluid spaces were dilated secondary to atrophy (Fig. 1b,c). At 7 days of age he was transferred to a university hospital. He was evaluated as Dandy-Walker variant based on MRI findings and phenobarbital was discontinued. A control visit was planned after 3 months. No laboratory...

According to our knowledge, we report the first case of MMF-induced PTC in a boy with ALPS. This case illustrates that despite the rarity of MMF-induced PTC, the physicians should be aware of this possibility. Furthermore, in the setting of new-onset headaches or visual changes, early ophthalmologic examination for papilledema is recommended for early diagnosis.

Although cranial and caudate nucleus magnetic resonance imaging findings were normal, the low ADC value findings in our study support the autoimmune inflammation in basal ganglia of Sydenham's chorea.

Febril konvülsiyon çocukluk döneminin en sık gözlenen konvülsiyon şeklidir. Bu çalışmada amacımız, febril konvülsiyon geçiren hastaların sosyodemografik özelliklerini belirleyerek etiyolojik faktörleri, rekürrens açısından risk faktörlerini ve rekürrens oranını belirlemektir. Yöntem: Erciyes Üniversitesi Tıp Fakültesi Çocuk Acil Polikliniğine ateşli havale nedeniyle başvuran ve dosyalarına ulaşılabilen 500 hastanın geriye dönük demografik özelliklerini belirleyerek etiyolojik faktörleri ve rekürrens açısından risk faktörlerini ve rekürrens oranını belirledik. Bulgular: Çalışmamızda erkek/kız oranı 1,14/1 idi. Hastaların ortalama yaş 26,92±18,366 ay idi. Ailede febril konvülsiyon öyküsü dağılımına bakıldığında olguların %35,8'inde ailesinde febril konvülsiyon geçirme öyküsü mevcuttu. Hastaların %80,8'inde basit, %19,2'sinde ise komplike febril konvülsiyon görüldü. Çalışmamızda, hastaların %88,6'sında konvülsiyon sırasında ateş 39°C'nin altında, %11,4'ünde ise 39°C'nin üstünde idi. Çalışmamızda, hastalarda febril konvülsiyonun yineleme yüzdesi 31,6 olarak bulundu. Çalışmamızda, literatürle uyumlu olarak febril konvülsiyon risk faktörleri arasında çocuğun yaşının 18 aydan küçük olması ve ailede febril konvülsiyon öyküsü varlığı mevcuttu. Çalışmamızda, febril konvülsiyonda rekürrense neden olan parametreler ilk konvülsiyonu 18 aylıktan küçük yaşta geçirmiş olmak, ailede febril konvülsiyon geçirme öyküsü varlığı, ailede epilepsi öyküsü ve konvülsiyon sırasındaki vücut ısısının 39°C'den düşük olması olarak belirlendi. Sonuç: Ailesinde febril konvülsiyon öyküsü olan, 18 aylıktan küçük yaşta febril konvülsiyon geçiren ve /veya düşük ateşte febril konvülsiyon geçiren çocuklarda febril konvülsiyonun tekrarlama olasılığı yüksektir. Febril konvülsiyon rekürrensi açısından risk faktörlerinin bilinmesi, ailelerin doğru bilgilendirilmesi, anksiyete düzeylerinin azaltılması ve gereksiz profilaktik tedavilerin önlenmesi açısından önemlidir.

Parvovirus is a rare cause of acute hepatitis. Two children with non A-E acute hepatitis in whom human parvovirus B19 was detected by PCR are reported.