We report a patient diagnosed with a germ-cell tumor presenting with spinal muscular atrophy with lower limb predominance (SMA-LED) caused by a DYNC1H1 genetic variant. His clinical and electrophysiologic phenotype was compatible with SMA-LED. We identified a heterozygous missense variant (c.1793G>T) of DYNC1H1. This report expands the clinical spectrum of DYNC1H1-related disorders, and reinforces the importance of DYNC1H1 in both central and peripheral neuronal functions. We suggest that germ-cell tumors should be considered as a possible phenotype of DYNC1H1-related disorders.

Citations

• Osteosarcoma in an Adolescent With Germline DYNC1H1‐Related Disorder: A Novel Association With Whole Genome and Transcriptome Tumour Analysis
  Cameron J. Grisdale, Rachel V. Silverberg, Bilal M. Marwa, Trevor J. Loback, Alysa A. Poulin, Kaveer K. Chatoorgoon, Saima Alvi, Shahrad R. Rassekh, Rebecca J. Deyell, Paul R. D'Alessandro
  Pediatric Blood & Cancer.2025;[Epub]     CrossRef

We describe the case of a 22-year-old female complaining of ophthalmoplegia, which deteriorated with seizure. Leigh syndrome (LS) was diagnosed by identifying the m.9176T>C mutation. She improved with vitamin cocktail therapy plus intravenous methylprednisolone, and had an excellent prognosis. This was the first case of an adult patient with LS presenting with the m.9176T>C mutation and reporting cortical symptoms, which in this case comprised cortical vision loss, and cortical, basal ganglia, and brainstem signal changes on magnetic resonance imaging.

Rhabdomyolysis is commonly defined as elevation of serum creatine kinase (sCK) level of above 10 times the upper limit of normal followed by a rapid decrease to normal values. Typical clinical features are myalgia, muscular weakness and black colored urine and the most common complication is acute renal failure due to acute tubular necrosis as a result of mechanical obstruction by myoglobin. Most patients experience one episode of rhabdomyolysis by substance abuse, medication, trauma, or seizures. When patients have a history of recurrent rhabdomyolysis, exercise intolerance or family members with neuromuscular disorders, further evaluations for genetic neuromuscular disorder are required. Mortality rate of rhabdomyolysis is, generally, below 10%, but very high in patients with acute renal failure. So, the management in the acute phase should be performed with maintenance of renal function and restore of metabolic derangements by various conservative managements, such as volume replacement.

Camptocormia, first described by Brodie in 1818, is defined as involuntary forward flexion of thoracolumbar spine. For many years, camptocormia was considered as chronic abnormal flexion of trunk with its origin primarily on psychiatric symptom. However, in these days, it is becoming recognized as a disease of progressive weakness in paravertebral muscles associated with many causes. We report a case with clinical suspicion of focal myopathy demonstrating symmetrical paraspinal muscle atrophy and fatty changes.