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Case 2-2025: A 21-Year-Old Man with Loss of Consciousness and a Fall.

N Engl J Med

January 2025

From the Departments of Emergency Medicine (E.F.S.), Radiology (B.P.A.), Medicine (S.S.A.), and Neurology (D.J.L.), Massachusetts General Hospital, and the Departments of Emergency Medicine (E.F.S.), Radiology (B.P.A.), Medicine (S.S.A.), and Neurology (D.J.L.), Harvard Medical School - both in Boston.

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Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Neurology

February 2025

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.

Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.

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Background: Perihilar cholangiocarcinoma presents unique challenges in perioperative management, requiring a comprehensive approach to optimize patient outcomes.

Aims: This case study focuses on the multidisciplinary management and innovative interventions performed in the perioperative care of a patient with hilar cholangiocarcinoma.

Methods: A comprehensive assessment and treatment strategy involving neoadjuvant therapy and interventional radiology techniques were implemented.

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