Dados do Trabalho

Título

Hereditary Sensory Neuropathy Type 5 (HSN5)

Apresentação do caso único

MCR, 21 years old, consanguineous parents, first-degree cousins. Complicated prenatal history due to hypertension. Normal delivery, preterm at 8 months, weight 2015g, height 47cm, head circumference 31cm. Admitted to the NICU for 15 days due to hypoactivity, difficulty sucking, and pneumonia. Breastfeeding for 6 months. Neuropsychomotor delay: cervical control at 4 months, sat with 1 year, crawled at 15 months, walked and spoke at 2 years, and ran at 3 years. Lack of pain sensitivity, slightly expressive face, anhidrosis, with fissures on hands and feet, necrosis of the fifth toe at 1 year. Self-mutilation of hand fingers, "biting fingers," multiple fractures since 2 years. At 5 years, coxofemoral dislocation. At 6 years, fractures in arms and knees. At 12 years, left coxofemoral surgery due to dislocation, requiring wheelchair use since then. No tactile or sensory alterations. Mild intellectual deficit, with poor and infantilized responses. Blunted mood, little expressiveness. Diagnosed in 2020 by panel for neuropathy 9Mendelics with a mutation in the NGF1 gene in homozygosity, position G... (+15pb)>g.

Discussão

Rare pathology (1:100,000 live births), autosomal recessive, characterized by insensitivity to pain and temperature from infancy. Common painless fractures, ulcers, and burns. Self-mutilation, biting of lips and tongue. Proprioception, sensitivity to touch, pressure, and vibration are not affected. The NGF-1 gene (Nerve Growth Factor) is crucial for the development and maintenance of sensory and autonomic nerves, potentially leading to neurological complications, such as peripheral neuropathy, insensitivity to pain, and impact on intellect. Studies suggest that individuals with NHSA5 have mutations in genes responsible for the development of small-diameter nerve fibers, which transmit pain sensation, thereby affecting sensory components, including sensory-discriminative (related to rapid spinal conduction systems) and affective-motivational components (processed by the reticular formation of the brainstem and limbic structures, influenced by slow spinal nociceptive systems). Diagnosis of NHAS types depends on four aspects: genetic, clinical manifestations, electrophysiological, and pathological. Treatment is symptomatic.

Comentários finais

The patient’s progression precisely reflects the characteristics of NHAS V, with multidisciplinary and symptomatic treatment aimed at improving quality of life.

Referências

Morrison I, Löken LS, Minde J, Wessberg J, Perini I, Nennesmo I et al. Reduced C-afferent fibre density affects perceived pleasantness and empathy for touch. Brain 2011; 134: 1116-1126.

Perini I, Tavakoli M, Marshall A, Minde J, Morrison I. Rare human nerve growth factor-β mutation reveals relationship between C-afferent density and acute pain evaluation. J Neurophysiol. 2016; 116: 425-430.

Sagafos D, Kleggetveit IP, Helås T, Schmidt R, Minde J, Namer B, et al. Single-Fiber Recordings of Nociceptive Fibers in Patients With HSAN Type V With Congenital Insensitivity to Pain. Clin J Pain. 2016; 32: 636-642.

ACOSTA-GUALANDRI, Alejandra; BOGANTES-LEDEZMA, Sixto. Neuropatía autonómica sensorial hereditaria. Acta Médica Costarricense, v. 56, n. 2, p. 81-84, 2014.

NAGASAKO, Elna M.; OAKLANDER, Anne Louise; DWORKIN, Robert H. Congenital insensitivity to pain: an update. Pain, v. 101, n. 3, p. 213-219, 2003.

OLIVEIRA, Carlos Rogério Degrandi et al. Anestesia em paciente com insensibilidade congênita a dor e anidrose. Revista Brasileira de Anestesiologia, v. 59, n. 5, p. 602-609, 2009.

SANVITO, Wilson Luiz; CATALDO, Berenice Oliveira V.; COSTA, Agnaldo Rodrigues. Neuropatia sensitiva e autonômica hereditária tipo II: a propósito de dois casos. Arquivos de Neuro-Psiquiatria, v. 61, n. 3A, p. 654-658, 2003.

Palavras Chave

Neuropathy; Neurogenetics; Sensory