cerebellar infarction in a 9 years old child presenting with fever and ataxia

Background: Cerebellar acute ischemic stroke (AIS) can be a complication of minor head trauma, vertebral artery dissection, vasospasm or systemic hypoperfusion. Computed Tomography (CT) scan usually is negative few hours after acute infarction. Magnetic resonance imaging (MRI) is superior to CT scan for posterior fossa lesions and also in acute phase of cerebellar stroke specially in children. Case summary: The patient was a 9 years Old girl presenting with sudden onset of headache and recurrent vomiting, ataxia and history of 3 consecutive days of fever and malaise. In the report of MRI there were abnormal low T1 and high T2 signal intensity in left cerebellar hemisphere involving superior and middle cerebellar peduncles. After 4 days of admission, the patient became drowsy, symptoms progressed and transfered to the pediatric intensive care unit (PICU). The patient underwent hemispherectomy surgery of the left cerebellar hemisphere because of acute obstructive hydrocephaly. After 5 months of occupational therapy the force of her extremities were normal and the ataxia completely disappeared. Conclusion: Childhood acute ischemic stroke although rare can happen with cerebellar involvement. Because in our patient the first brain CT scan was nearly normal and a false negative rate for initial computed tomography (CT) scanning of 60-80 percent also contributes to missed and delayed diagnosis of childhood AIS, we conclude that for every child presenting with acute ataxia without identified cause in addition to CT scan, MRI also being ordered and from the beginning beside other causes, stroke be contemplated as a cause of ataxia

A Rare Presentation of Carnitine Palmitoyltransferase II (CPT-2) Deficiency With Normal Acylcarnitine Profile in a 10-Year-Old Boy With Muscle Weakness and Bilateral Hearing Loss

Carnitine palmitoyltransferase II (CPT-2) deficiency is a rare and autosomal recessive disorder of long-chains fatty acids oxidation. Here, we report a 10-year-old boy with a bilateral hearing loss and a myopathic form of CPT II deficiency which was confirmed under molecular genetic test analysis. He was admitted to our hospital with unexplained headache, vomiting, and fever. Furthermore, he developed seizures, muscle weakness, neck stiffness and pain, mild respiratory distress, and icteric appearance. The laboratory test results also showed sever elevated levels of lactate dehydrogenase (LDH) and Creatine phosphokinase (CPK). He had also icteric appearance with unexplained hyperbilirubinemia. Further examinations revealed normal heart, liver without neurological disorders. Muscle pathological examination reported normal pathology without neuromuscular and mitochondrial disorders and storage diseases. Finally, molecular test analysis with next generation sequencing (NGS) revealed a homozygous pathogenic variant in the CPT-II gene, c.338C>T p. (Ser113Leu) which was correlated to CPT-II deficiency fatty acid oxidation disorder. Furthermore, we identified a homozygous pathogenic variant in the ADGRV1 gene, c.15736C>T p.(Arg5246*), which suggest the Usher syndrome type 2C and the reason for sensorineural hearing loss in this case. Our finding indicates that CPT-II can be associated with multiple symptoms and clinical features. Therefore, evaluation of CPT-II deficiency with molecular test analysis may be helpful in cases with unexplained icteric appearance, muscle weakness and rhabdomyolysis.&nbsp

The first febrile seizure; predisposing factors and recurrence rate

  Objective Febrile seizure is the most common worrisome neurologic disorder in children in terms of parental point of view. The purpose of this study was to answer distressing parents’ questions about the prevalence and possibility of febrile seizure recurrence. Materials & Methods 140 patients who were admitted due to the first febrile seizure in the six months (March up to September) of the year 2015 were enrolled to this study. Exclusion criteria include central nervous system infection, non-confirmed febrile seizure and lack of parental acceptance for long-term inclusion in this study. All children were followed in terms of second febrile seizure during one year follow-up from the time of first febrile seizure. (3 sentences were deleted). Results Recurrence of febrile seizure was 25.7 % during one-year follow-up. Significant risk factors for recurrence include: age less than one year old, male gender, seizure with low level of fever, family history of epilepsy, family history of febrile seizure, complex febrile seizure (focal and repeated in 24 hours), seizure duration more than 15 minutes and parental indifference to the onset of fever in their children before seizure occurrence. Although duration of fever before seizure, failure to thrive, positive history of admission in neonatal period, dystocia atbirth delivery and children with day care staying were associated with greater febrile seizure recurrence; but, they did not have significant relationship with recurrence rate. Prophylaxis with benzodiazepine reduced the recurrence rate. Conclusion Chance of febrile seizure recurrence in one-year follow-up increased in presence of risk factors expressed in finding part. parental indifference to the onset of fever in their children that is starting before seizure was a considerable risk factor in terms of recurrence prevalence. We recommended to emphasis on parental education about this new finding as a risk factor for febrile seizure in order to prevent its future recurrence

Frequency and Type of Hepatic and Gastrointestinal Involvement in Juvenile Systemic Lupus Erythematosus

Background. Systemic lupus erythematosus (SLE) is a frequent rheumatology disorder among children. Since hepatic involvement is a common systemic manifestation in lupus, the frequency and type of hepatic involvement were determined in pediatric cases of SLE admitted to Children’s Medical Hospital from 2005 to 2014. Methods and Patients. In this observational case-series study, 138 pediatric cases of SLE were admitted in Children’s Medical Center (a pediatric rheumatology referral center in Tehran, Iran) enrolled from 2005 to 2014 and the outcomes, frequency, and type of hepatic involvement were assessed among them. Results. Hepatic involvement was reported in 48.55% of total SLE patients. Aspartate aminotransferase (AST), alanine aminotransferase (ALT), and both enzymes higher than normal upper limits were detected in 8.7%, 5%, and 34.7% of lupus patients, respectively. Increased level of liver enzymes was categorized as less than 100, between 100 and 1000, and more than 1000 levels in 23.1%, 23.1%, and 2.1% of cases. The only gastrointestinal involvement in lupus patients contributing to hepatic involvement was gastrointestinal bleeding. Rising in liver enzymes was detected mostly in lupus patients without gastrointestinal bleeding (52.2% without versus 25.8% with gastrointestinal bleeding, P=0.007). Conclusion. Approximately half of the pediatric patients suffering from SLE have hepatic involvement. No significant correlation was observed between various organs involvement and abnormal level of liver enzymes