Lysosomal Myopathies

How to Cite this Article: Nilipour Y. Lysosomal Myopathies. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):11.Pls See PDF.

Muscle Biopsy Findings in Mitochondriopathies

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Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran

Background: Lipid storage myopathies (LSMs) are rare diseases. The phenotype and genotype of lipid metabolism disorders are heterogeneous and divided into two major groups. Constant or progressive proximal and axial muscle weakness associated with or without metabolic crisis, is often seen in patients with LSM such as primary carnitin deficiency (PCD) or multiple acyl-coenzyme a dehydrogenase deficiency disorder (MADD). On the other hand, rhabdomyolysis triggered by fasting, fever, or physical activity usually occurs in patients with disorders affecting intramitochondrial fatty acid transport and β-oxidation, such as carnitine palmitoyltransferase II deficiency (CPT2), mitochondrial trifunctional protein deficiency and very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). Methods: In this cross-sectional study, we summarized the clinical profiles and muscle histology of 64 Iranian patients diagnosed with LSM by muscle biopsy. These patients were selected from 3000 patients referred for muscle biopsy to Toos and Mofid children’s hospitals during 2010 to 2016. Their affected siblings were also added to the study. Result: In our study 45.3% of the patients were men and 54.7% were women. Mean age of the patients was 27.05 years (SD: 14.26) and the mean age of onset of symptoms in these patients was 20.94 (SD: 14.25) years.  Most patients (70.3%) had proximal weakness and no bulbar involvement. Only 9.3% of the patients had a positive family history. Conclusion: LSMs are not incommon in Iran and their phenotype can mimic inflammatory myopathy or limb girdle muscular dystrophy. Overall the demographic and clinical features of LSMs in Iranian patients were similar to prior reports

Evaluation of Radiographic, Neuropathological, and Demographic Findings in Children Aged 1 To 18 Years with Brain Tumor

Background: Brain tumors in children can involve different parts of the brain and cause high mortality. These tumors have different types, and they cause different conflicts and complications. So far, limited studies have been conducted in Iran on children's brain tumors. This study aimed to evaluate radiographic, neuropathological, and demographic findings in children aged 1 to 18 years with brain tumors. Materials and Methods: In this descriptive study, which was conducted for children aged 1 to 18 years with brain tumors admitted to the children's ward of Shohada Hospital (Iran-Tehran) in 2012-2018, 64 children were evaluated. Patient information was extracted from patients' files, including basic data radiological and clinical findings. A significance level was considered less than 0.05. Results: Twenty-six patients (40.6%) were girls, and 38 (59.4%) were boys. 96.9% of the children were term, and the mortality rate was 40.6%. 57.8% were diagnosed in less than one month from the onset of symptoms. 47.6% of patients had a positive family history, and none of them had a history of brain infection. The most common clinical complaint was N/V. The most common location of the tumor was the fourth ventricle (31.3%), and acute hydrocephalus was also seen in 19 patients (29.7%). The most common tumor was medulloblastoma (93.8%), and the most common stage was grade 4 (98.4%). Desmoplastic medulloblastoma was the most common form of medulloblastoma. 9.4% of patients were positive for tumor marker P53. None of the patients were positive for Beta-Catenin. Conclusion: The findings have shown that being a boy, involvement of the fourth ventricle and medulloblastoma are the most common characteristics of brain tumor involvement in Iranian children

Tumors of the Central Nervous System: An 18-Year Retrospective Review in a Tertiary Pediatric Referral Center

How to Cite This Article: Aghayan Golkashani H, Hatami H, Farzan A, Mohammadi HR, Nilipour Y, Khoddami M, Jadali F. Tumors of the Central Nervous System: An 18-Year Retrospective Review in a Tertiary Pediatric Referral Center. Iran J Child Neurol. Summer 2015;9(3):24-33. AbstractObjectiveFew studies exist on the demographics and trends of pediatric central nervous system (CNS) tumors in Iran. In this study, we retrospectively reviewed all cases with confirmed CNS tumors admitted to Mofid Pediatric Hospital, Tehran, Iran during the last 18 years.Materials & MethodsData on gender, age of diagnosis, pathologic classification and tumor location were extracted from the available medical records. We used the last version of International Classification of Childhood Cancer.ResultOverall, 258 (81.9%) brain tumors and 57 (18.1%) spinal tumors were identified.Our subjects comprised of 147 (46.7%) female and 168 (53.3%) male children.More male dominancy was observed in brain tumors with a male to female ratio of 1.2 compared with 1.03 of spinal tumors. Malignant CNS tumors were most common in 1-4 yr age group. The four most common brain tumors in our subjects were astrocytomas, medulloblastoma, ependymoma and craniopharyngioma.Overall, 53.1% of the brain tumors were supratentorial. Gliomas, PNET and neuroblastma were the most frequent primary spinal tumors in our study. We observed an increasing trend for both brain and spinal tumors that was more remarkable in the last 5 years.ConclusionOur results are comparable with similar single center studies on CNS tumors during childhood. The observed disparities could be attributed to the single center nature of our study and geographical, environmental and racial variations in pediatric CNS tumors. The increasing trend of both brain and spinal tumors could warrant further investigations at provincial and national levels to investigate probable contributing environmental risk factors.

A Rare Case Report of Duodenal Adenocarcinoma Accompanied by Cerebellar Medulloblastoma

A case of a 6-year-old female with a diagnosis of Duodenal Adenocarcinoma is presented by the authors, in which 24 months subsequent to undergoing radiation therapy for a Cerebellar Medulloblastomas, the mentioned diagnosis has been confirmed. Although, the chance of a secondary malignancy has been recognized to be elevated in children formerly undergone radiation therapy, the incidence of duodenal adenocarcinoma is a highly infrequent condition. As a consideration, observing manifestations like weight loss, vomiting, and icterus in a pediatric patient who has been administered earlier on with radiation therapy, must alert physicians that the risk of a gastrointestinal malignancy exists

A dermatopathic Juvenile Dermatomyositis; An Unexpected Case in Childhood

Abstract Juvenile dermatomyositis (JDM) is a rare idiopathic inflammatory disease which usually presents with skin rashes along with muscle weakness. We report a case of JDM in a 10- year-old girl with no skin manifestations.She was presented with progressive muscle weakness and fatigue. Further laboratory investigation along with a muscle biopsy confirmed the diagnosis of Adermathopathic Juvenile Dermatomyositis. The patient was treated with intravenous immunoglobulin, corticosteroids, methotrexate, hydroxychloroquine, pamidronate, and Rituximab.Following treatment, patients symptoms subsided and she gained normal muscular strength over the course of a year

The art of muscle biopsy in new genetic era

Abstract  Objective Muscle biopsy is a part of paraclinical workup of patients with neuromuscular diseases. With great new advances in techniques of molecular diagnosis like next generation sequencing (NGS) and introducing new serologic markers in recent years, the strategy of diagnosis of some neuromuscular diseases has been changed and application of muscle biopsy has been questioned in some instances. Materials and methodWe explain role of pre and post muscle biopsy factors and their importance to achieve the best result from a muscle biopsy and review indications of muscle biopsy in different types of neuromuscular diseases based on literature review and our 12 years experience as the only standard referral center for muscle biopsy for a population of about 80 millions. ConclusionAlthough diagnostic algorithm of some muscle diseases has been changed by recent advances in diagnostic biochemical and molecular techniques, still muscle biopsy continues to play a major role in diagnosis and managing of neuromuscular patients and physicians must choose their preferable diagnostic test for their patient's, case by case, based on their local available facilities.

Soft palatine mass with diagnosis of mature teratoma

Teratoma is a true neoplasm that consists of tissues from all 3 embryonic germ layers: ectoderm, mesoderm, and endoderm. Nasopharyngeal teratoma is very rare. We present one case of nasopharyngeal teratoma attached to the soft palatal wall in a newborn

Retroperitoneal Malignant Peripheral Nerve Sheath Tumor Replacing an Absent Kidney in a Child

Malignant peripheral nerve sheath tumors (MPNSTs) are nonrhabdomyosarcoma soft tissue sarcomas with rare occurrence in children specially in the retroperitoneum. We describe a young child who presented with an abdominal mass. Both ultrasound and computed tomography revealed a large right-sided abdominal mass in the anatomic place of right kidney, while no kidney or ureter was observed at that side. He underwent surgical resection of the tumor with a primary impression of Wilms tumor. To the authors’ knowledge, this is the first case of retroperitoneal malignant peripheral nerve sheath tumor and absent kidney. This case suggests the very rare probability of association of MPNSTs in children with genitourinary tract anomalies such as renal agenesis