Re: RIGA-FEDE SYNDROME

Riga-Fede disease :A rare case report

Introduction

Riga-Fede disease is a traumatic ulceration of ventral surface of tongue, most often associated with natal or neonatal teeth or erupted primary lower incisors. The self mutilating behaviour is quite common in children with lower intelligence, congenital insensitivity to pain (familial dysautonomia), CIPA (congenital insensitivity to pain with anhidrosis) and with a habit of repetitive tongue thrusting against lower central incisors.

Antonia Riga an Italian physician, was the first to report the malady in 1881, while the first histologic examination of this oral phenomenon was described by Fede in 1890. There has been only 11 cases reported in literature. Trauma to oral mucosa may result in surface ulceration but most heal within days The ulceration in Riga-Fede disease may remain for a long time, resulting in inadequate food intake, retardation of growth and sometimes results in dehydration, feeding difficulties and failure to thrive in an infant.

Case report

An 11 month old female child reported to outpatient department with cleft like deformity of tongue present since 5 months . Her mother reported that an ulcer had appeared after the child used to rubbed her tongue against the erupted incisors very often and caused difficulty in feeding. The parents were illiterate, have never visited any paediatrician in the past to assess her medical condition. Patient’s mother gave a history of consanguineous marriage and death of her first female child within one year of age which was mentally retarded.

On general physical examination the child was distressed, weak, malnourished, deaf, mentally retarded by birth, unable to hold her neck and all milestones delayed, continuous uncoordinated movements of hands, feet and abdomen. On consultation with paediatrician, child was diagnosed with cerebral palsy.

On intraoral examination an ulcer was present on the tip of tongue covering dorsal and ventral surface measuring approx 4.5x 3 cm with irregular borders covered with pseudo membranous slough .The ulcer had partially healed creating a cleft like deformity on anterior one third of tongue giving the tongue a bifid appearance.The lower central incisors 71, 81 and 51,61,52,62 were erupted. On palpation of ulcer the child did not elicit significant painful response

On thorough history and examination the condition was diagnosed as Riga-Fede disease.

The child was prescribed topical corticosteroid application and extraction of the mandibular incisors. On consultation with the child’s parents it was confirmed that the ulcer was healing, but unfortunately the child died due to high grade fever and an episode of seizure after 15 days.

Discussion

Riga-Fede disease is of particular concern because it is frequently associated with malnourished infants. And in conditions like severe cerebral palsy they cannot control spasticity of the tongue , hence the repeated ulcerations. Self mutilation or self injurious behaviour is most common in mental retardation, Lesch-Nyhan syndrome, familial dysautonomia and congenital insensitivity to pain. This is a rare disease first to be reported in an Indian child. The Riga-Fede disease persisted for a long time which resulted in inadequate food intake and retardation of growth, dehydration and failure to thrive. Cases have been reported of Riga- Fede disease associated with natal or neonatal teeth, but we report this case associated with erupted primary dentition. Treatment of this disease has varied from excision of the lesion to smoothening of sharp incisal edges. The conservative treatment involving use of emollient corticosteroid orabase , and stoma adhesive wafer has also have proved beneficial. Behaviour modification like use of protective dental appliances has also been the cornerstone of treatment. In our case though we had planned the appropriate treatment, the child couldn’t survive. The consequence could be attributed to poverty, illiteracy of the parents, and failure to seek medical attention for the underlying nutritional deficiency and associated high grade fever and seizures.