Case Report: Biotinidas Defficiency and Report of 3 Cases

Biotinidase deficiency is a rare metabolic disease that is transmitted as an autosomal recessive trait. The clinical manifestations of the disease are, lactic acidosis, alopecia, ataxia, spastic paraplegia, seizure and developmental delay. Other clinical features are erythematous rash, hearing and visual loss. In this 4 article we report 3 patients with complete biotinidase deficiency. First patient was an Infant (3 months old-male) and second patient was an infant (5months old-male) that both of them referred for developmental delay, seizure, alopecia and spastic paraplegia. Laboratory exam showed hyper ammonia, lactic acidosis and the level of Biotinidase was remarkable deficient. All of the symptoms and signs were improved with Biotin. The third patient (8 months old-female) referred for developmental delay and erythematous rash around the orifices. The laboratory exam showed Biotinidase deficiency and all of the symptoms improved with Biotin

Case Report: Sjogren-Larsson Syndrome: Two Cases from One Family

Sjogren–Larsson Syndrome (SLS) is an autosomal recessive disorder characterized by generalized Ichthyosis, mental retardation, spastic diplegia or tetraplegia and epilepsy. This is a rare syndrome that caused by mutation in the ALDH3A2 gene, on chromosome 17p11.2. That encodes fatty aldehyde dehydrogenase (FAIDH), an enzyme that catalyzes the oxidation of medium – long chain aldehydes derived from lipid metabolism. Neuroimaging (MRI) shows retardation of myelination and a mild myelin deficit. Proton Magnetic Resonance Spectroscopy (MRS) shows the peak of lipids that accumulate because of fatty alchohols. We report two cases that they are siblings from relative parents. The Brother is 4 years old and his sister is 3 years old. , The clinical findings are developmental delay, mental retardation, spastic Tetraplegia and refractory seizure. The most important finding in these two siblings was generalized Icthyosis. MRI showed hyper signality in white matter and MRS showed the peak of accumulated lipids that confirmed the diagnosis of "Sjogren-Larsson Syndrome"

Review: Recent Finding about Etiology of

Autism and the other disorders in the autism spectrum are behaviorally defined syndromes that can be a prolonged disorder. The specific underlying neurophysiologic mechanisms simply not known, but probably several causes lead to disorders in the autism spectrum. This article is summary of recent research about etiology of autism but the search must continue. 1) Neurobiological origin, the neurobiological investigations show the role of dopamine and serotonin in pathogenesis of autism. 2) Genetic, studies in autism was established the hypothesis that genetic factors can be etiologically significant in subsets of patients. 3) With the Regional cerebral glucose metabolism measurement, autistic children had a left> right anterior rectal gyrus asymmetry as opposed to the normal right> left asymmetry in that region. 4) With the Regional cerebral blood flow measurement no cortical regional abnormalities were found. 5) Association of epilepsy and autism pediatric epilepsy lead to autistic regression. 6) Association of tuberous sclerosis and autism the number of tubers was significantly greater in individuals with a diagnosis of autism than in those without this diagnosis. 7) Embryological origin for autism, the results and two new lines of evidence that place the initiating injury for autism around the time of neural tube closure. 8) Obstetric complications and later autistic disorder, these data do not support the view that obstetric complications increase the risk for later autism. 9) Food allergy, recent findings show a relationship between food allergy and infantile autism. 10) Head circumferences measurement in children with autism show the large head circumference and increased growth

A Survey on 100 Children with Acute Ataxia in Mofid Children Hospital Tehran, Iran

Objective: The term “Ataxia” is used to denote disturbances of the body posture and its movement that are normally controlled by the cerebellum. frontal lobes and the posterior columns of the spinal cord. The initial symptom and the most prominent feature of ataxia is abnormal gait which is characterized by lurching and wide base walking. Knowing that, the acute ataxia is among those problems that brings very soon the child to pediatrics neurology department and in view of lack of any survey in this neid in our country, we decided to investigate the etiology of acute ataxia in Islamic Republic of Iran. Materials & Methods: Our patients were recruited from 100 children who were brought to neurology service of Mofid children hospital with the chief complaint of acute ataxia over 2 years period. (sep 2001 to sep 2003). All of those 100 patients were admitted and required investigations were performed. Results: Results of our workup revealed that the most common cause of acute ataxia is acute cerebellar one, which all of them preceded by viral febrile illness. The second frequent cause of acute. Ataxia is due to drug intoxication, which commonly was observed between 2 – 4 years period. Conclusion: The remaining etiologies in descending frequency were as follow, Infectious polyneuropathy, Migraine, Opsoclonus – Myoclonus, Brain tumor, ADEM,MS and Epilepsy

The Comparison of Two Types of Treatment (High Dose and Low Dose IVIG) in Children with GBS in Mofid Hospital

Objective: Acute inflammatory demyelinating peripheral neuropathy (Guillain-Barre-Syndrome) is by far the most common cause of immune–mediated peripheral nerve disease in children and with the near disappearance of poliomyelitis, is responsible for the great majority of cases of acute flaccid paralysis. Several controlled studies have done with corticosteroids, plasma pheresis and IVIG in pediatric patients. IVIG treatment can be done in two types of treatment: 1- High dose that means 1gr/kg/day for 2 days. 2- Low dose that means 400mg/kg/day for 5 days. Several studies in other countries have shown faster rate of recovery in patients who received total dose of IVIG in 2 days as opposed to 5 days. Materials & Methods: Because we have not any study about this two types of treatment in IRAN we decided to comparison this two types of IVIG treatment. So the patients that referred to Mofid children hospital for weakness and we diagnosed GBS (with history, physical examination, laboratories and EMG-NCV) are divided in two groups: 1- High dose IVIG treatment (experimental group). 2- Low dose IVIG treatment (control group) Then the results evaluated. Results: Our findings included that in high dose IVIG therapy we have faster rate of recovery and the Hospital stay is shorter than low dose IVIG-therapy. Also in this type of treatment “because the patients cure faster” , so complications are decreased in them. In the group of high dose IVIG therapy, lower and upper extremities weakness decreased in time. Conclusion: We did not receive any relationship between side effects of drugs and the type of treatment. The relationship between high dose IVIG therapy and drug side effects was not significant

Pulmonary Involvement in Neuromuscular Diseases: A review

Neuromuscular diseases (NMDs) affect muscle function directly or indirectly by affecting nerves or neuromuscular junctions. One of the leading causes of death in patients with NMD is respiratory muscleweakness (RMW). Respiratory involvement in patients with NMD can manifest widely, from mild failure that may initially affect only sleep to severe failure that can be life-threatening. Care approaches include arranged and precise clinical follow-ups of signs of sleep-disordered breathing, daytime hypoventilation, coughing, and swallowing disturbances. This manuscript will review the mechanisms and abnormalities of respiratory function in patients with NMD and help optimize NMD management