A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Multiple Cranial Nerve Palsies in a Pediatric Case of Lemierre's Syndrome due to Streptococcus viridans. [PDF]
Novotny S +3 more
europepmc +1 more source
A Case Report of Juvenile Myasthenia Gravis; Misdiagnosis and Considerations
ABSTRACT Juvenile myasthenia gravis (JMG) is a rare autoimmune disease acquired in childhood, comprising 8%–15% of all myasthenia gravis cases depending on geographic and ethnic populations. Ocular myasthenia gravis presents as ptosis with extraocular movement restriction and is frequently misdiagnosed as third nerve palsy or congenital ptosis when ...
Elaheh Heidari, Amin Saeidinia
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Successful Management of and Recovery from Multiple Cranial Nerve Palsies following Surgical Ventral Stabilization in a Dog with Atlantoaxial Subluxation. [PDF]
Song JH +4 more
europepmc +1 more source
ABSTRACT Early recognition of syndromic features by dental professionals can lead to timely diagnosis and intervention, especially when systemic anomalies have been overlooked. Preventive and individualized dental management, supported by behavioral guidance, can achieve long‐term stability even in medically complex patients, including those with ...
Nazanin Nasr +4 more
wiley +1 more source
Is elevated serum homocysteine in isolated ischemic cranial nerve palsies a predictor of stroke? [PDF]
Ravindran PD +3 more
europepmc +1 more source
Guillain-Barré Syndrome Following Chickenpox With Multiple Cranial Nerve Palsies and Cerebrospinal Fluid Pleocytosis. [PDF]
Balamurugesan K +2 more
europepmc +1 more source
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem +9 more
wiley +1 more source
Artery of Percheron infarct with multiple cranial nerve palsies and Horner Syndrome. [PDF]
Sanfelippo WA +3 more
europepmc +1 more source
Multiple Lower Cranial Nerve Palsies Due to Nasopharyngeal Actinomycosis Masquerading as a Tumour - A Diagnostic Conundrum. [PDF]
Karri M, Ramasamy B, Perumal S.
europepmc +1 more source

