Neurologic Manifestation of Organic Academia

Inborn errors of organic acid metabolism are relatively recently recognized diseases with a wide spectrum of clinical signs and symptoms: ranging from asymptomatic, normal appearing children to death during first few days of life.In my presentation I will try to explain some of the most common clinical presentation of these disorder with stress on neurologic findings. Organic acidemia usually have three clinical manifestations Severe neonatal form, Intermittent late-onset form and chronic progressive form. Recurrent coma, The main feature of these disorders is due to accumulation of toxic metabolites in Central Nervous system with direct effect on the function, while chronic accumulation of these materials may interfere with CNS development or cerebral metabolism leading to developmental delay.Severe neonatal formsFollowing a symptom free interval of a few days from birth, poor sucking and difficult feeding appears in the newborn, followed by unexplained and progressive coma. Seizures may appear during the course of the disease and EEG may show a burst-suppression pattern. During this stage most infants have axial hypotonia with peripheral dystonia, choreoathetosis, episodic opisthotonus and some repetitive bicycling and boxing movements.Associated biochemical abnormalities including metabolic acidosis, ketonuria and hyperammonemia also is usually present. The overall short-term prognosis with recent advances in medical care is improving. But later in life acute intercurrent episodes triggered by a stress often occur, which can be occasionally fatal.bulging fontanelle and cerebral edema may mimic CNS infection in these babies.Intermittent late-onset formsRecurrent attacks of coma or lethargy with ataxia can occur in childhood or even in adolescence or adulthood. These episodes may be frequent, though in between these the child is entirely normal. These attacks are precipitated by conditions that enhance protein catabolism (trauma, infection etc).Sometimes these episodes can lead to death or severe sequel. Seizure disorder is one of these sequels which is generalized in type with myoclonic seizure in infancy and childhood and later tonic-clonic and atypical absence seizures predominate.Also many of the survivors have acute or progressive extra pyramidal syndrome due to bilateral necrosis of basal ganglia.Chronic progressive formsNon specific Developmental delay, hypotonia, muscular weakness, microcephaly and seizures are rarely the only revealing signs in organic acidemia without any acute presentation.Seizures may become refractory to Anti Epileptic Drugs. In addition many asymptomatic or minimally symptomatic infants have been identified during tandem mass spectrometry newborn screening program. Cognitive deterioration associated with movement disorder such as dystonia or chorea may be caused by any form of organic aciduria

Juvenile Pompe

How to Cite this Article: Tonekaboni S.H. Juvenile Pompe. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):10. pls see PDF

CNS Involvement by Novel Influenza Virus Type A (H1n1), the First Report from Iran

ObjectiveThis is the first report of CNS involvement by the new influenza virus (influenza A [H1N1]) in Iran. The patient was a 10-year-old boy with chief complaints of fever, malaise, and cranial nerve involvement, resulting in respiratory muscle paralysis and intubation. This shows that the new influenza virus, as well as the seasonal flu, can cause neurologic complications; however, the severity of the signs and symptoms is less and the disease may resolve without complications in the case of seasonal flu. Therefore, in each patient with neurologic involvement and typical influenza signs & symptoms or a flu-like syndrome, diagnostic tests for H1N1 flu virus should be considered, especially during epidemics, and treatment with oseltamivir should be started.

Risk Factors and Prognosis of Epilepsy in Children with Hemiparetic Cerebral Palsy

ObjectiveEpilepsy is reported in 15-90% of the children with Cerebral Palsy (CP) but its clinical course is not well defined.We conducted a retrospective study on children with hemiparetic CP who were referred to Pediatric Neurology Department of Mofid Hospital. The aim of our study was to evaluate the risk factors and prognosis of epilepsy in children with hemiparetic CP.Materials & MethodsWe evaluated 64 children with hemiparetic CP who were referred to Pediatric Neurology Department of Mofid Hospital between 2006 and 2008.According to our protocol, patients were divided into two groups: 34 children in the case group (hemiparetic patients with epilepsy) and 30 children in the control group (hemiparetic patients without epilepsy).ResultsPrenatal, perinatal and postnatal events, maternal age at the time of delivery, socioeconomic status of the family, familial history of epilepsy, neuroimaging findings, side of the hemiparesia and age at diagnosis of hemiparesis were not considered as risk factors for epilepsy in hemiparetic children, but microcephaly, severity of hemiparetic CP and mental retardation were significantly associated with an increased risk of epilepsy in children with hemiparetic CP.ConclusionOur study showed that microcephaly, severity of hemiparesis and mental retardation were risk factors for developing epilepsy in children with hemiparetic CP; furthermore, they had negative effects on rehabilitation outcome in these patients.

A Novel Mutation of GDAP1 Associated with Charcot-Marie-Tooth Disease in An Iranian Family

As a result of higher distributed consanguinity in the Mediterranean region and the Middle East, autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) are more common in these areas. CMT disease caused by mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene is a severe autosomal recessive neuropathy resulting in either demyelinating CMT4A neuropathy or axonal neuropathy with vocal cord paresis. The patient was an 8-year-old boy with AR inheritance that showed some delayed achievement of motor milestones, including walking, also bilateral foot drop, wasting of distal muscles in the legs, pes cavus and marked weakness of the foot dorsiflexors. He had no hoarseness or vocal cord paralysis. Total genomic DNA was extracted from whole peripheral blood of the patient and his family by using standard procedures. PCR- sequencing method were used to analysis the whole coding regions of the GDAP1 gene. A novel homozygote insertion of T nucleotide in codon 34 was detected (c.100_101insT) that probably led to an early stop codon. This mutation may be associated with a common haplotype, suggesting a common ancestor that needs further investigation in the Iranian population

Ultrasonographic measurement of subarachnoid space and frontal horn width in healthy Iranian infants

Objectiveultrasonography is among the most general evaluating methods for central nervous system (CNS) assessment, especially for detecting extra axial collection via anterior fontanel. There are few studies showing values of this technique in normal developing infants for detection of subarachnoid space width.Association between age and sex and cerebrospinal fluid (CSF) spaces are controversial. Therefore, we conducted this study to evaluate the relationship between subarachnoid space and sex and age in Iranian infants.Material & Methodswe used ultrasonography with a 7.5MHZ linear probe to evaluate 74 healthy infants who were referred to our departments for other reasons. Sinocortical width (SCW), craniocortical width (CCW),  interhemispheric width (IHW) and frontal horn width (FHW) were evaluated. Data was collected and analyzed using STAT 9.1 software.ResultsFifty four percent of the patients were male and 45% were female. Mean age of cases was 71 days. Mean SCW was 2.8 ± 1.33 mm (5% and95% were 1.2-5.8). Mean CCW was 2.52±1.37mm (5% and 95% were 1.1 and 5.2mm, respectively) and mean IHW was 4.39±2mm (5% and 95% were 1.7 and 8mm, respectively). Mean FHW was 2.9+/-1.09mm in females and 3.52±1.34mm in males (5% and 95% were 1.4 and 5mm in females & 1.7 and 5.8mm in males, respectively). There was no significant difference in subarachnoid space width between boys and girls except for FHW which was wider in males than females. (P=0.037). All space diameters correlated with age and were wider in older infants.ConclusionAlthough our sample size was rather small for accurate conclusion, we found a normal range which was wider than western countries but similar studies conducted in China. Delayed maturation of arachnoid villi is one of the most important reasons of subarachnoid space widening in infants younger than one year which seems occur later in Iranian infants.Key words: Ultrasonography;subarachnoid space; infant

The Effect of the Ketogenic Diet on the Growth and Biochemical Parameters of the Children with Resistant Epilepsy

ObjectiveThe aim of this study was to evaluate the effect of the ketogenic diet on the growth parameters of the children with resistant epilepsy.Materials & MethodsA total of 36 children with resistant epilepsy who were 2 to 7 year old were put on the ketogenic diet. Their growth and biochemical parameters were studied at the beginning of the study and after 3 months.ResultsWeight decreased in all patients. Serum levels of hemoglobin, calcium, and blood sugar decreased significantly but remained in the normal range. Creatinine did not change, but BUN showed a significant increase.ConclusionWe can lower the complications of ketogenic diets by using more unsaturated fat, more water, and more minerals.

Another limping child: an interesting diagnosis journey

 Abstract: Limp is described as any deviation from a normal gait pattern for the child’s age. Limping takes many forms and is one of the most enigmatic complaints in pediatric medicine. It is never normal, and both benign and life-threatening illnesses can present with limp. The provisional diagnosis can be a challenge to establish even after history, physical, and laboratory examinations.Keywords: limping child; Weakness; Hypercalciuri

Clinical and Para clinical Manifestations of Tuberous Sclerosis: A Cross Sectional Study on 81 Pediatric Patients

How to Cite this Article: Tonekaboni SH, Tousi P, Ebrahimi A, Ahmadabadi F, keyhanidoust Z, Zamani Gh, Rezvani M, Amirsalari S, Tavassoli A, Rounagh A, Rezayi A. Clinical and Para clinical Manifestations of Tuberous Sclerosis: A Cross Sectional Study on 81 Pediatric Patients. Iran J Child Neurol 2012; 6(3): 25-31.ObjectiveMigraine is a disabling illness that causes absence from school andaffects the quality of life. It has been stated that headache may representan epileptic event. EEG abnormality is a prominent finding in childrenwith migraine. The aim of this study was to evaluate EEG abnormalitiesin children with migraine.Materials & MethodsTwo-hundred twenty-eight children were enrolled into the study.Evaluation and following of cases was performed by one physician,paraclinical tests were used to increase the accuracy. The study wasconducted under the supervision of pediatric neurology masters and theselected cases were from different parts of the country.ResultsComparing EEG abnormalities in different types of migraine revealedthat there is an association between them. There was also a significantdifference between EEG abnormalities in different types of aura. Migrainetype was associated with the patient’s age. Sleep disorders were morecommon in patients with a positive family history of seizure.ConclusionOur study dosclosed migraine as a common problem in children withabnormalities present in approximately 20% of the patients. Migraineand abnormal EEG findings are significantly associated.RefrencesBundey S, Evans K. Tuberous sclerosis: a genetic study. J Neurol Neurosurg. Psychiatry 1969 Dec;32(6):591-603.Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms,and commonly missed signs. Pediatrics 2011 Jan;127(1):e117-25.Thiele EA, Korf BR. Phakomatoses and allied conditions.In: Swaiman KF, Ashwal S, Ferriero DM. Swaimans pediatric neurology. 5th ed. China: Elsevier Saunders;2012. p. 504-9.Lendvay TS, Marshall FF. The tuberous sclerosis complex and its highly variable manifestations. J Urol2003 May;169(5):1635-42.Curatolo P, Jóźwiak S, Nabbout R; on behalf of the participants of the TSC Consensus Meeting for SEGA and Epilepsy Management. Management of epilepsy associated with tuberous sclerosis complex (TSC):Clinical recommendations. Eur J Paediatr Neurol 2012Jun;16(1):83-5.Jansen FE, Van Huffelen AC, Van Rijen PC, LeijtenFS,Jennekens-Schinkel A, Gosselaar P et al. Epilepsy surgeryin tuberous sclerosis: the Dutch experience. Seizure 2007Jul;16(5):445-53.Turgut M, Akalan N, Ozgen T, Ruacan S, Erbengi A. Subepandymal giant cell astrocytoma associated with tuberous sclerosis: diagnostic and surgical characteristics of five cases with unusual features. Clin Neurol Neurosurg1996 Aug;98(3):217-21.Coppola G, Klepper J, Ammendola E, Fiorillo M, dellaCorte, Capano G. The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis. Eur J Pediatr Neurol 2006 May;10(3):148-51.Jozwia S, Kotulska K, Domanska-Pakiela D, LojszczykB, Syczewska M et al. Antiepileptic treatment before the onset of seizure reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. Eur J Paediatr Neurol 2011 Sep;15(5):424-31.Konishi Y, Ito M, Okuno T, Hojo H, Okuda R, Nakano Yet al. Tuberous sclerosis: early neurologic manifestations and CT features in 18 patients. Brain Dev 1979;1(1):31-7.Gerard G, Weisberg L. Tuberous sclerosis: CT findings and differential diagnosis. Comput Radiol 1987 Jul-Aug;11(4):189-92.Pompili G, Zirpoli S, Sala C, Flor N, Alfano RM, Volpi A et al. Magnetic resonance imaging of renal involvementin genetically studied patients with tuberous sclerosis complex. Eur J Radiol 2009 Nov;72(2):335-41.Fleury P, de Groot Wp, Delleman JW, Verbeeten B Jr,Frankenmolen-Witkiezwicz IM. Tuberous sclerosis: theincidence of sporadic cases versus familial cases. BrainDev 1980;2(2):107-17.Saadat M, Ansari-Lari M, Farhud DD. Consanguineous marriage in Iran. Ann Hum Biol 2004 Mar-Apr;31(2):263-9.Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004 Sep;19(9):643-9.