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Congenital Insensitivity to Pain With Anhidrosis: A Case Report and Review of the Pertinent Literature.

ABSTRACT: Congenital insensitivity to pain with anhidrosis, or hereditary sensory and autonomic neuropathy (HSAN) type IV, is an exceedingly rare neurogenetic disorder. Reported causes are homozygous or compound heterozygous loss-of-function mutations in the neurotrophic tyrosine receptor kinase 1 gene (NTRK1). Characteristically, patients with this disorder exhibit a complete diminution of pain and temperature sensations over the body disrupted sweat gland functioning, and variable degrees of sensation and cognitive impairments. We hereby present the clinical and neurophysiologic features of a 15-month-old boy with a homozygous frameshift mutation in c.1860_186insT. (p.Pro621Serfs*12) in the NRTK1 gene, consistent with the diagnosis of congenital insensitivity to pain with anhidrosis.

SUBMITTER: Almutairi MM

PROVIDER: S-EPMC9718252 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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Congenital Insensitivity to Pain With Anhidrosis: A Case Report and Review of the Pertinent Literature.

Almutairi Muneer M MM Tabassum Sadia S

Cureus 20221102 11

Congenital insensitivity to pain with anhidrosis, or hereditary sensory and autonomic neuropathy (HSAN) type IV, is an exceedingly rare neurogenetic disorder. Reported causes are homozygous or compound heterozygous loss-of-function mutations in the neurotrophic tyrosine receptor kinase 1 gene (<i>NTRK1</i>). Characteristically, patients with this disorder exhibit a complete diminution of pain and temperature sensations over the body disrupted sweat gland functioning, and variable degrees of sens ...[more]

PMID: 36475157

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Project description:BackgroundCongenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal-recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV). The most commonly reported features include anhidrosis, intellectual disability, self-mutilation, febrile episodes, impaired temperature perception, recurrent infections and/or autonomic nervous system impairment. Major joint destruction and joint deformity known as Charcot (neuropathic) joints are also seen in CIPA patients attributed to insensitivity to joint pain.MethodsWe present a case of a 46-year-old female affected with CIPA with a known NTRK1 variant and previously unidentified variant. Minigene reporter constructs were generated encompassing the exon 8 to exon 13 of the NTRK1 gene using the reference sequence and one harboring c.1483 + 5G > A variant identified in our proband. Minigene constructs were transfected into HEK293T cells, and the transcript was analysed for splicing to evaluate the effect of this variant in splicing.ResultsThe patient (46-year-old female) exhibited right ankle joint deformity around 5 years of age. Patient also experienced lumbar compression and knee damage in adulthood. She had undergone a significant number of evaluations without clear diagnosis. Her presentation lacked many of the common clinical presentations of CIPA, and therefore, the focus of her evaluation was directed towards her unexplained joint deformities. Exome sequencing revealed a known pathogenic variant in NTRK1 (c.851 - 33T > A:p.? [Intron 7]) and a novel NTRK1 variant (c.1483 + 5G > A:p.? [Intron 11]), which was later re-classified as likely pathogenic. The patient was started on a biologic disease-modifying anti-rheumatic medication (bDMARD) due to a possible inflammatory etiology of her joint deformity. Molecular diagnosis allowed for modification of her treatment and surveillance strategies. Our minigene splicing assay demonstrated that the presence of the c.1483 + 5G > A variant has a negative effect on splicing, supporting the pathogenicity of this novel variant.

Dataset Information

Congenital Insensitivity to Pain With Anhidrosis: A Case Report and Review of the Pertinent Literature.

Publications

Congenital Insensitivity to Pain With Anhidrosis: A Case Report and Review of the Pertinent Literature.

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