Congenital insensitivity to pain with anhidrosis and multiple Charcot joints in a child: A case report

Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a rare autosomal recessive condition affecting various tracts in the peripheral and autonomic nervous system. CIPA has an incidence of 1/125,000,000. The only known causative gene to date is neurotrophic tyrosine receptor kinase 1 (NTRK1), which is located on chromosome 1q21-q22. The mutation in the NTRK1 gene is associated with consanguineous marriages. Manifestations of this condition are highly variable, with insensitivity to pain being the mainstay. Patients are commonly presented with bruises, joint dislocations, multiple fractures, oral manifestations, and disfigured joints. We present a rare case of a CIPA patient manifested with Charcot’s joints. A 15-year-old male presented with multiple destructed joints in both knees, ankles, and wrists. He uses walking aids and has a loss of response to painful stimuli. The condition started at the age of 7 years. Other manifestations were fever, anhidrosis, mental retardation, and self-mutilating behaviors. The parents have a consanguineous marriage. Nerve and muscle biopsies were obtained and revealed no significant pathological abnormalities. However, imaging showed grossly disorganized joints and the clinical diagnosis of CIPA was confirmed. As illustrated in this case, the occurrence of CIPA syndrome, hereditary sensory and autonomic neuropathy Type IV, remains highly unprecedented and genetic testing is mandatory for the diagnosis. In addition, nerve and muscle biopsy should be obtained, and advanced imaging such as magnetic resonance imaging is needed to evaluate the case fully. There is no definitive therapeutic intervention for this condition, therefore, education and prevention are important to improve the quality of life of a CIPA patient.

Sensory manifestations of diabetic neuropathies: Anatomical and clinical correlations

Background: Diabetes mellitus is among the most common causes of peripheral neuropathy worldwide. Sensory impairment in diabetics is a major risk factor of plantar ulcers and neurogenic arthropathy (Charcot joints) causing severe morbidity and high health-care costs. Objective: To discuss the different patterns of sensory alterations in diabetic neuropathies and their anatomical basis. Study design: Literature review. Methods: Review of the literature discussing different patterns of sensory impairment in diabetic neuropathies. Results: The different varieties of diabetic neuropathies include typical sensorimotor polyneuropathy (lower extremity predominant, length-dependent, symmetric, sensorimotor polyneuropathy presumably related to chronic hyperglycemic exposure, and related metabolic events), entrapment mononeuropathies, radiculoplexus neuropathies related to immune inflammatory ischemic events, cranial neuropathies, and treatment-related neuropathies (e.g. insulin neuritis). None of these patterns are unique for diabetes, and they can occur in nondiabetics. Sensory alterations are different among these prototypic varieties and are vital in diagnosis, following course, treatment options, and follow-up of treatment effects. Conclusions: Diabetic neuropathies can involve any segment of peripheral nerves from nerve roots to the nerve endings giving different patterns of abnormal sensation. It is the involvement of small fibers that causes positive sensory symptoms like pain early during the course of disease, bringing subjects to physician’s care. Clinical Relevance This article emphasizes on the fact that diabetic neuropathies are not a single entity. They are rather different varieties of conditions with more or less separate pathophysiological mechanisms and anatomical localization. Clinicians should keep this in mind when assessing patients with diabetes on the first visit or follow-up.

Neuromuscular disorders

♦ Neurological disorders can be sensory, motor, or a combination of the two♦ Motor disorders may be flaccid or spastic, static or progressive♦ Splints may improve function but are not proven to prevent contractures♦ Botulinum toxin and tenotomy can be used to manage spasticity♦ Osteotomies may be needed to manage rotatory abnormalities♦ Sensory nerve abnormalities may cause Charcot joints.