Publications by authors named "Ali M Tahir"

Congenital renal tumors are rare. In infancy, congenital mesoblastic nephroma is the most commonly reported renal tumor. It is recognized antenatally due to polyhydramnios and presents clinically as a palpable abdominal mass in the neonatal period.

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Article Synopsis
  • Hermansky-Pudlak syndrome (HPS) is a rare genetic condition with multiple system effects, inherited in an autosomal recessive manner, primarily due to mutations that impact lysosomal function.
  • It is characterized by symptoms such as oculocutaneous albinism, bleeding disorders from platelet storage issues, lung fibrosis, and colitis.
  • A case report detailed a two-year-old boy diagnosed with HPS type 2, showing signs of albinism and skin lesions, along with recurrent nosebleeds, confirmed by genetic testing indicating a specific gene mutation.
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Three years old boy with reassuring development had presented to the Pediatric Neurology clinic with a referral due to a large head. Occipito-frontal circumference was more than 97 centile with an unremarkable neurological examination. MRI brain exhibited an acute on chronic large right frontoparietal subdural hematoma with prominent mass effect.

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Primary ciliary dyskinesia (PCD) involves cilia impairment, with resultant symptoms of repeated respiratory infections, sinusitis, and infertility. We report a seven-year-old boy of Arab ethnicity, with consanguineous parents, who was identified to have situs inversus totalis in neonatal life. There was a significant family history of ciliopathy as situs inversus totalis, infertility, and recurrent respiratory infections were noted in his two paternal uncles.

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Vitreous detachment is a rarely reported manifestation of systemic lupus erythematosus (SLE). We present here the case of a 20-year-old woman with a history of SLE who presented with a decrease in vision in both eyes, massive hepatosplenomegaly, and multiple joint pain. B-scan ultrasonography revealed bilateral vitreous detachment.

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