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Título

Multiple abdominal aneurysms in an asymptomatic LAMA2 myopathy and leukoencephalopathy

RESUMO

Case Presentation: A 50-year-old female, hypertensive, daughter of non-consanguineous parents, presented with acute pain at the upper left abdominal quadrant. Abdominal ultrasound revealed left non-obstructive renal lithiasis. Computed tomography scan incidentally showed multiple saccular aneurysms close to the renal hilum and to the splenic hilum, in addition to expressive volumetric loss of paravertebral and lumbar dorsal spinal muscle bellies. Her creatine phosphokinase (CPK) was 359 IU/L. A next generation sequencing panel for neuromuscular disorders revealed two pathogenic variants in LAMA2: c.2461A>C (p.Thr&21Pro). Pulmonary function tests disclosed only mild obstructive respiratory disorder. Brain MRI revealed extensive involvement of the white matter of the cerebral hemispheres, mainly in the deep regions of the brain, confluent and bilateral, compatible with leukoencephalopathy. Discussion: LAMA2-Related Muscular Dystrophy (LAMA2-MD) is part of a group of muscle disorders called Congenital Muscular Dystrophies (CMD) and the clinical manifestations represent a continuous spectrum, varying from a severe congenital muscular dystrophy to milder late-onset LAMA2-MD. Late-onset LAMA2-MD usually presents with proximal muscle weakness (not present in our case) and delayed motor milestones (but independent ambulation can be achieved). A leukoencephalopathy is also present and is an important finding to suggest this diagnosis. Reported atypical findings include seizures, rigid spine syndrome with joint contractures, progressive respiratory insufficiency and cardiomyopathy with or without conduction defect, but aneurysms were not yet mentioned. LAMA2 pathogenic variants can lead to defects in laminin alpha-2 protein, also called merosin. As merosin is a subunit of laminin and laminin isophormes are expressed in a lot of tissues, including endothelial and perivascular basement membranes, we might observe vascular abnormalities as the aneurysms described in this case. Final considerations: Here we report a case not yet described, as far as we know, of multiple abdominal aneurysms in a patient diagnosed with muscular dystrophy and leukoencephalopathy related to LAMA2. Although there is a lack of literature regarding an association of LAMA2 with aneurysms, we hypothesize that alterations in laminin could interfere with vessel wall architecture.

Palavras Chave

LAMA2-Related Muscular Dystrophy . Aneurysms. Merosin.

Área

Neurogenética