Multiple Sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system (CNS). Up to 10 % of MS patients have onset in paediatric age group. Although the clinical profile of MS appears similar to that seen in adults, several features may differ and specific issues arise in children. Here, we reported a 12-year old girl who presented with 3-year history of episodes of seizures and facial nerve palsy and finally fatigue and cognitive impairment were noted and interfered with her academic performance. Because of the presumed atypical clinical presentations, the diagnosis was missed then dismissed despite neuroimaging features and CSF immunological findings that were highly suggestive of MS. Later, evolution of the disease by neuroimaging helped confirming the diagnosis and directed toward the delayed therapy.
Background: Lumbar puncture is a procedure that is frequently performed in the pediatric practice.Objective: To review some (patient, provider and technique- related) characteristics of lumbar puncture performed at the Children Welfare Teaching Hospital, Baghdad / Iraq.Methods: A descriptive cross-sectional study was conducted in the period from April to September, 2017. A self-prepared questionnaire was used to collect the data. It included 32 items, which were divided into three sections: Residents doctors' information (3 items), patient's information (2 items) and procedure’s information (27 items).Results: The total number of performed procedures was 103, of which 51 (49.5%) were performed in the oncology ward. About half (50, 48.6%) of the patients were preschool-aged. Lumbar puncture was indicated for diagnostic purposes in 52(50.5%) cases. Nearly two thirds (67, 65.9%) of the procedures was performed by senior residents (3rd/4th Board residents). A written consent was obtained in only one case, the couch sheet were not renewed in 92 (93.9%) cases, a drape were not used in 92 (93.9%) cases, sitting upright position was assumed in 90 (91.8%) cases, gloves were worn by the doctor in all cases, anesthesia was used in 47 (48%) cases, antiseptics were used in 97 (99%) cases ,one holder was noted in 93 (94.8%) cases ,SpinocanQuincke and 22 Gage needle type was used in 98 (100%) cases, one entry attempt per procedure was reported in 79 (80.6%) cases and no documentation in the patients’ notes was reported in any of the procedures.Conclusion: Lumbar puncture load was found in the oncology ward both for the patients and the residents. Safety was considered but was suboptimal in all wards.
Background: In children, chronic immune-mediated neuropathies present with slowly progressive or relapsing episodes of gait difficulty, symmetric weakness and sometimes paraesthesia. Infancy and early childhood age of presentation and familial recurrence are believed to be atypical features. Case presentation: Herein, we describe two brothers from a non- consanguineous Iraqi family, who presented with episodes of acute immune-mediated demyelinating peripheral neuropathy in early infancy that relapsed recurrently. Mild haemolytic anaemia was also reported. Inherited metabolic disorders were suspected and Whole Exome Sequencing of the youngest brother revealed homozygous frame shift mutation in CD59 gene, confirming the diagnosis of autosomal recessive hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy (HACD59). Conclusion: The report highlights the advantage of genetic testing in such rare and inherited conditions. In the lack of necessary non-traditional diagnostic methods, it is substantial to maintain the accustomed medical practice and strategies, based on available clinical data.
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