Rare case of Hereditary Sensory and Autonomic Neuropathy Type II in female child with multiple orthopaedic ailments

HSAN Type II is a rare disease, and in the few cases that have been reported, the focus has been on identifying genetic markers of the disease. In poor socioeconomic conditions, reaching a definitive diagnosis through genetic analysis is not mandatory, as the management for all types of HSAN remains the same. Orthopaedic conditions may be a major presentation of the disease, and the prevention of superficial trauma and foot care is the only effective management.

A 10-year-old female child of poor socioeconomic status presented for the first time with fever since 2 weeks and swelling since 2 weeks of the left knee joint. There was no history of associated pain.

She previously underwent amputation for her right second and third toe due to self-mutilation of the toes and subsequent osteomyelitis at 4 years of age. She also underwent left knee arthrotomy and lavage for septic arthritis at 7 years of age and 9 years of age at a local hospital near her village.

The parent of the child gave history of self-mutilation of the fingers, toes, and lips (lip-biting) since 2 years of age. Parents also gave history of reduced pain sensation and temperature sensation. The parent complained of dryness of the child's skin and reduced sweating. There was no history of any other autonomic symptoms, such as gastroesophageal reflux.

The child was born of a non-consanguineous marriage. It was a preterm normal delivery due to severe pre-eclampsia in the mother. She did not receive any neonatal intensive care. She is the oldest of the three children. The second child , aged 8 years, and the third child, aged 4 years, both exhibit symptoms of self-mutilation. The second child similarly has been admitted for repeated episodes of septic arthritis. No other members of the family are affected.

Developmental delay was present, with significant reduction in developmental quotient in the gross motor, fine, motor, language, and social and adaptive skills domains. The child has never walked. Intelligence quotient is reduced, and she attends first standard in school. Ophthalmologic and auditory examinations were normal.

On examination, the child was conscious, hyperactive, and febrile. Clubbing was present. Heterochromia was present. Multiple scars and deformities were present over the digits and the left knee joint. Skin was dry and hyperkeratotic with lack of hair on the skin. Cardiovascular, respiratory, and gastrointestinal examination was normal. Neurological examination showed lack of pain and temperature sensations. Deep tendon reflexes were normal. Motor examination showed reduced power and hypotonia in all limbs.

On local examination, the attitude of the left lower limb was neutral at the hip joint and semi-flexed at the knee joint. Effusion, local rise of temperature, and tenderness were present over the knee joint. A clinical diagnosis of septic arthritis of the left knee was confirmed by routine blood investigations, and histopathology of the knee synovium, and culture sensitivity of the aspirate revealed Klebsiella spp. as the organism. Knee radiograph showed destruction of articular surfaces.

Routine blood investigations and synovial fluid analysis of joint and culture and sensitivity of aspirate remained mainstay of diagnosis of septic arthritis. Standard radiographs of involved joint showed destruction of joint with subsequent presentations.

For the neurological symptoms and signs, the differential diagnoses considered were Lesch–Nyhan syndrome, HSAN Type IV, HSAN Type II, leprosy, and autosomal recessive immunodeficiency syndromes. A diagnosis of HSAN Type II was reached on a clinical basis following genetic counselling.

Patient underwent arthrotomy of joint and as joint was grossly destructed. The multiple episodes of septic arthritis in this child did not resolve with conventional intravenous (i.v) antibiotics and arthrotomy/arthroscopy and lavage, prompting the use of arthrodesis. Patient was planned for arthrodesis of joint after discussing with parents. She underwent Charnley's left knee arthrodesis and was managed with i.v. antibiotics. Following this, the child developed septic arthritis again in the left knee and culture of the aspirate revealed infection with Citrobacter spp. She was managed conservatively with i.v. antibiotics and recovered.

However, she sustained subtrochanteric fracture of femur which was managed accordingly which united eventually. Eventually left knee arthrodesis could be achieved. Similarly, for the next 3 years, the child developed multiple episodes of septic arthritis in the right knee. Initially, Charnley's arthrodesis was attempted in the right lower limb to preserve limb length, but as infection reoccurred, Ilizarov's arthrodesis was finally used. To resolve the osteomyelitis occurring and to maintain alignment of lower limb, an antibiotic bead-coated intramedullary nail splinting extending from femur to tibia was done, which also failed subsequently and removal of nail was done.

The most recent episode of osteomyelitis and septic arthritis in the right knee prompted use of arthrotomy and debridement due to the prolonged nature of the disease. Prevention of further episodes of septic arthritis and osteomyelitis through prevention of trauma and self-mutilation and proper foot care is the only definitive management. Option of therapeutic amputation was suggested; however, it was declined by relatives. Currently, child is on long knee immobiliser and on-and-of antibiotic coverage as disease flares up.

Outcome of this condition could be disastrous if proper supportive care is not given to patient. Child is being followed up in outpatient department monthly once. Child is clinically evaluated and routine hemogram is done to look for infective parameters.

Further reading:

Hereditary Sensory and Autonomic Neuropathy Type II in a Female Child with Multiple Orthopaedic Ailments: Diagnosis and Operative Management.

Surendra U. Kamath, Sunil Lakshmipura Krishnamurthy, Rajendra Annappa.

Indian Journal of Orthopaedics (2022) 56:1482–1487

https://doi.org/10.1007/s43465-022-00671-y