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IntroductionDe Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities, including absence of septum pellucidum and corpus callosum dysgenesis. Diagnosis is made clinically by the presence of any two or more features from the clinical triad.Case presentationWe report a case of a premature African newborn male baby born to nonconsanguineous parents who presented to our institution with agenesis of the septum pellucidum, unilateral optic nerve hypoplasia, and pituitary stalk hypoplasia. However, he had intact central endocrine function. He also presented with limb defects due to constricting amniotic band syndrome. Other dysmorphic features were low-set ears, microcephaly, and bilateral talipes equinovarus. He otherwise had a normal neurological examination result. Over time, he had an adequate weight gain and was managed by a multidisciplinary team.ConclusionDe Morsier syndrome still represents a diagnostic challenge, despite advances in neuroimaging and genetic studies, due to the heterogeneous nature of the disorder. This case adds to existing knowledge on the vascular pathogenesis of septo-optic dysplasia.
Pfeiffer syndrome is a rare genetic disorder with heterogenous phenotype and prognosis. Due to its diverse clinical presentation, it can easily be misdiagnosed. Where genetic testing still remains a challenge, antenatal sonogram can aid in early diagnosis. The cranioorbito‐faciostenosis demands aggressive management to permit survival instead of uniform early demise.
Rosai Dorfman disease is a rare cause of sinus histiocytosis with massive lymphadenopathy, in developing countries it mimics tuberculosis and malignancies like lymphoma and its often mismanaged. A high index of suspicion is necessary for its diagnosis. It resolves spontaneously therefore observation is currently the advocated approach for its management.
Background
Peripheral neuropathy (PN) is a neurological complication of untreated Human Immunodeficiency Virus (HIV) infection or exposure to certain antiretroviral drugs. In Tanzania where HIV is a major public health problem, the burden of HIV associated peripheral neuropathy has not yet been well defined in children.Thisstudy investigated the prevalence and associated factors for peripheral neuropathy among children living with HIV, attending Care and Treatment Clinic (CTC) at Muhimbili National Hospital (MNH).
Materials and methods
A cross-sectional study was conducted among 383 HIV positive children aged 5 to 18 years at MNH, CTC in Dar es Salaam between October to December 2019. All participants provided written assent/consent. Structured questionnaires designed for this study was used to collect data and screening for peripheral neuropathy was done on each participant using the Pediatric modified Total Neuropathy Score (Ped m TNS) that includes subjective and objective assessment. A score of 5 or greater on the Ped m TNS was used to define peripheral neuropathy. Data analysis was done using SPSS Version 23.
Results
The prevalence of peripheral neuropathy among HIV infected children was 14.1 % (95 % CI (10.8 − 18 %). Common neuropathic symptoms were numbness, tingling sensation, reduced ankle reflexes and reduced sensation to light touch and pain that was limited to the toes. Low CD4 cell count (OR = 12.21; 95 % CI3.75–39.66; p = 0.0001), high viral load (OR = 10.54; 95 % CI 3.19–34.77; p = 0.0001), ART regime containing NRTI plus PI (OR = 3.93; 95 % CI 1.43– 10.74; p = 0.01) and the last exposure to isoniazid more than 6 months ago (OR = 3.71; 95 % CI 1.57–8.77; p = 0.003) were independent predictors for peripheral neuropathy.
Conclusion
Peripheral neuropathy is common among HIV infected children attending CTC at MNH and its frequency increases with advanced disease. The choice of ART regimen and other drugs for treating comorbid conditions should carefully be evaluated.
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