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Título

Penguim Gait, Lynx Ears and Bulldog Scalp, a diagnostic dilemma

RESUMO

Clinical case: A 29-year-old male reported a 6-year-history of gait disturbance and cognitive impairment. His parents were first cousins, and a brother started with the same symptoms at 18-year-old. Clinical examination demonstrated dysarthria and spastic paraplegia, with a grade IV muscular strength, spasticity, and hyperreflexia in the lower limbs; his patellar and Achilles reflexes were brisk, and he presented a spastic gait. In addition, head and skull examination demonstrated a curious feature: The presence of cutis verticis gyrata. Brain Magnetic Resonance Imaging (MRI) revealed bilateral hyperintensities at the periventricular white matter.Whole-exome sequencing revealed a mutation in the SPG11 gene (SPG 11:
NM_001160227.2:exon35:c.6493_6494del:pS2165Lfs).

Discussion: Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders characterized by progressive lower limb weakness and spasticity, caused by mutations in the spastic paraplegia gene (SPG). SPG11 gene (located on chromosome 15q13-15), has 100.982 coding nucleotides distributed in 40 exons and translates into spatacsin. Descriptions include more than 160 pathogenic variants, mostly missense mutations. SPG 11 can present as a pure HSP with autosomal recessive inheritance, but patients frequently develop a complicated HSP phenotype with cognitive impairment, peripheral neuropathy, cerebellar, lower motor neuron, and extrapyramidal features. A recognized hallmark of SPG11 is the presence of a thin corpus callosum (TCC) in the brain MRI. HSP-TCC also occurs in peripheral neuropathy with agenesis of the corpus callosum and other HSPs.

Final Comments: Clinical findings such as the age of onset, gait disturbance, and presentation of motor and cognitive impairment were usual for SPG11, but this was not enough to settle the diagnosis. This case presented no additional clues to help in the diagnosis, such as a thin corpus callosum or "ears of the Lynx''. The dermatologic sign was a surprise and can open our eyes to possible future genotype-phenotype correlations toward SPG11. Although there are no reported cases correlating cutis verticis gyrata and SPG11, we suggest that clinicians be aware of this possible association. It was an unusual case, where clinical findings alone led to doubt. Genetic testing was necessary, leading to a surprising outcome.

Palavras Chave

SPG11, Hereditary Spastic Paraplegia, Penguin Gait, Bulldog scalp, Spastic ataxia, Lynx ears