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Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by hamartomatous growths with unpredictable progression. Diagnosing and managing neonatal tuberous sclerosis can be challenging. We report a rare case of a 30-day-old male born out of a non-consanguineous marriage who presented with poor suckling and persistent abnormal body movement, required prolonged intensive care, and was diagnosed with tuberous sclerosis with multisystem involvement.
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Key Clinical Message: Gaint fungating BCC is rare and aggressive. Early health-seeking behavior may result in positive outcomes. Abstract: Fungating giant basal cell carcinoma (BCC) is a rare and aggressive form of BCC infrequently reported in the literature. We present a giant BCC case in an old female from a rural area with a poor socioeconomic profile.
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Key Clinical Message: A newborn with a rare form of biliary atresia had posterior fossa bleed and subarachnoid hemorrhage despite vitamin K prophylaxis, indicating biliary atresia is a causality rather than chance. Abstract: Biliary atresia frequently causes surgical jaundice, resulting in delayed vitamin K deficiency. We report a 28-day-old newborn diagnosed with a rare form of biliary atresia presented with an unusual association of posterior fossa bleed and subarachnoid hemorrhage despite vitamin K prophylaxis. Thus, biliary atresia remains causality rather than chance.
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Key Clinical Message: WD is diagnosed with the help of a brain MRI, which frequently reveals hyperintensities in the lentiform nucleus. But occasionally, high signals can be seen in the pons, thalamus, and midbrain. Abstract: Wilson disease is a rare inherited disorder due to impaired copper excretion. The brain MRI mainly shows hyperintensities in the lentiform nucleus. We report the case of an 18 years old female diagnosed with neurological Wilson disease, presenting with uncommon brain MRI hyperintensities, predominantly in the pons, thalamus, and midbrain.
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Children with Coronavirus disease 2019 infection usually have mild symptoms but rarely may present with a life-threatening condition called a multisystem inflammatory syndrome. We report a case of COVID-19-related multisystem inflammatory syndrome in an 8-year-old boy who presented with cardiogenic shock due to acute myocarditis with no features of Kawasaki disease. Cardiogenic shock was refractory to fluids and inotropes. Later, this case was successfully managed with hydrocortisone and intravenous immunoglobulin. Therefore, this case report highlights keeping a lookout for such atypical presentations and early referral to a higher center for timely intervention and aggressive therapy specifically directed against the underlying inflammatory process to ameliorate the outcomes. Keywords: cardiogenic shock; COVID-19; kawasaki disease; myocarditis; Nepal.
Assuntos
COVID-19 , Síndrome de Linfonodos Mucocutâneos , Miocardite , Masculino , Humanos , Criança , COVID-19/complicações , Choque Cardiogênico/diagnóstico , Choque Cardiogênico/etiologia , Choque Cardiogênico/terapia , Miocardite/complicações , Miocardite/diagnóstico , Síndrome de Linfonodos Mucocutâneos/complicaçõesRESUMO
A referred case of a 34-year-old woman was brought to the emergency room with features of mutism and whole-body rigidity following rapid correction of hyponatremia. On presentation, she was ill looking with tremors on her both hands and legs. She was unresponsive to command and developed involuntary outbursts of laughter and crying. Based on clinical features and neuroimaging, diagnosis of isolated extrapontine myelinolysis was made. She was treated with quetiapine, vitamin B1 and B12 supplements, trihexyphenidyl, levodopa-carbidopa and physiotherapy of limbs. Due to lack of clinical trials for adequate diagnosis and management of extrapontine myelinolysis, this case report highlights the importance of extrapontine myelinolysis with neuropsychiatric manifestation in research world.