JNMA; journal of the Nepal Medical Association
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JNMA J Nepal Med Assoc · Feb 2024
Case ReportsDandy-Walker Malformation with Neonatal Meningitis: A Case Report.
Dandy-Walker syndrome is a rare congenital central nervous system malformation. Dandy-Walker variant is characterised by cerebellar vermian hypoplasia, cystic fourth ventricular dilatation, and normal posterior fossa volume. Various prenatal tests such as ultrasound, fetal magnetic resonance imaging, and amniocentesis can help diagnose Dandy-Walker syndrome. Here, we report a case of the Dandy-Walker variant with meningitis in a neonate admitted to the neonatal intensive care unit due to multiple petechiae on the anterior abdominal wall, accompanied by peripheral cyanosis at the time of birth. Although maximum cases are diagnosed prenatally, some cases might be missed due to inadequate antenatal examination. Magnetic imaging resonance of the brain is best for the diagnosis of Dandy-Walker syndrome postnatally. ⋯ case reports; Dandy-Walker malformation, magnetic resonance imaging, meningitis.
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Zellweger syndrome is an autosomal recessive disease within the spectrum of peroxisome biogenesis disorder manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidney. Common clinical presentations include hypotonia, seizure, hepatomegaly, craniofacial dysmorphism and early death. Mutation in one of the PEX genes coding for a peroxisome assembly protein creates a functionally incompetent organelle causing accumulation of very long chain fatty acids in various organs. Here we report the case of a 5-month-old male presented at birth with hypotonia, poor feeding, gross congenital anomalies and later during early infancy with failure to thrive, several episodes of seizures, aspiration due to feeding difficulties and recurrent severe pneumonia. A whole genomic sequencing brought us to the final diagnosis of Zellweger syndrome. Despite an absence of treatment options, prompt diagnosis of Zellweger syndrome is important for providing appropriate symptomatic care, definitive genetic testing and prenatal counselling. ⋯ case reports; mutation; neonate; Zellweger syndrome.
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JNMA J Nepal Med Assoc · Feb 2024
Case ReportsPrimary Orbital Tuberculosis with Cold Abscess: A Case Report.
Orbital tuberculosis is a rare form of extrapulmonary tuberculosis involving orbital soft tissue, periosteum, bones and lacrimal glands. This is a case report of a 6-year-old male child who presented with swelling of the right upper eyelid. He had normal visual acuity without signs of diplopia or ophthalmoplegia. The tuberculin skin test was reactive and the computed tomography scan showed peripherally enhancing collection with bony erosion and intracranial extension in the extraconal space of the superolateral right orbit. Orbital exploration was done which showed caseous material. The histological examination revealed necrotizing granulomatous tissue. The caseous material on Ziehl Neelsen staining confirmed acid-fast bacilli causing a tubercular abscess. The child is currently on anti-tubercular therapy planned for 12 months. Orbital tuberculosis might or might not be in association with pulmonary tuberculosis and should always be taken into consideration while dealing with chronic inflammatory orbital disease and an orbital mass. ⋯ case reports; orbit; tuberculosis.
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JNMA J Nepal Med Assoc · Feb 2024
Poor Quality of Sleep among Healthcare Workers in a Tertiary Care Centre.
Health personnel work under highly stressful conditions with long work hours, frequent night work, and shift duties resulting in sleep problems. Sleep problems lead to a decline in performance, cognition, memory, decision-making, medical errors and mental disorders. The study aimed to find out the prevalence of poor quality of sleep among healthcare workers in a tertiary care centre. ⋯ health personnel; mental disorders; prevalence; quality of sleep; sleep.
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JNMA J Nepal Med Assoc · Feb 2024
Non-Communicable Diseases among Women of Reproductive Age Visiting the Department of Obstetrics and Gynecology of a Tertiary Care Hospital.
Non-communicable diseases are a significant cause of mortality worldwide, posing a substantial risk to women's health, as stated by the World Health Organization. In Nepal, a survey revealed that 10.5% of the population suffers from hypertension. The primary objective of this study was to determine the prevalence of non-communicable diseases among women of reproductive age visiting the Department of Obstetrics and Gynecology of a tertiary care hospital. ⋯ chronic disease; non-communicable disease; prevalence; risk factors.