Riga-Fede disease associated with Fabry’s disease and Niemann-Pick C disease in a boy with microcephaly: A case report

Introduction

Riga-Fede disease (RFD) is a rare disease that affects infants and could be associated with neurological and genetic disorders. It is described as benign traumatic ventral tongue ulceration caused by repeated forward and backward movements of the tongue over the lower incisors.^[1]

Niemann-Pick C disease (NP-C) is a rare inherited neurovisceral atypical lysosomal lipid storage disorder initiated by mutations in genes that caused damaged intracellular lipid running and build-up of glycosphingolipids and cholesterol in the brain and other tissues.^[2,3]

Fabry disease (FD) is a rare an X-linked lysosomal disorder caused by the deficient activity of the enzyme a-galactosidase A. Angiokeratomas, pain crisis, and cornea verticillata are early manifestations of FD.^[4]

To date, there is no previous published case with these rare genetic associations; RFD, NP-C, FD, and microcephaly. In addition, it is the first reported case of a RFD affected the dorsal surface of the tongue.

The aim of this report is to present and discuss steps of diagnosis and the effect of misdiagnosis on the management of a very rare case.

Case Report

A special needs 16-month-old Saudi boy. The chief complaint was a large ulcer on his tongue that caused pain, bleeding overnight, lack of sleep, and feeding difficulties. The mother reported that she noticed the ulcer 2 months ago and clinically examined by eight separate dentists. One of them thought that the lesion was a fungal infection and prescribing Daktarin oral gel 40 mg but in spite 1 month of treatment, the ulcer got bigger with more feeding and sleeping difficulties.

The mother also reported that the child was having a repetitive forward and backward movement of the tongue. The parents were very anxious as some dentists informed them that this lesion could be cancer.

Regarding familial history, the parents are first cousins and the mother has hypothyroidism. This boy was her only child after two abortions; one born with anencephaly (absent brain). The medical history revealed that he was born preterm (36 weeks) with microcephaly. After delivery, he was hypoactive, hypotonic and had respiratory distress, neonatal convulsion, and poor sucking reflexes. Before their visit to me, they had visited 12 local, national, and international medical centers for clinical examinations and laboratory investigations [Table 1].

On the first visit, he was not responding, and no eye contact. It was difficult to open his mouth as he had a strong bite and uncontrolled tongue thrust. The intraoral examination revealed an ulcer approximately measuring about 3 cm × 2.5 cm on the dorsal surface of the tongue extended from the tip to the middle of the tongue [Figure 1]. Smoothing the sharp edges by removing mamelons of the lower primary incisors using a diamond bur in a high-speed dental handpiece was completed. A month later, the RFD ulcer had healed successfully [Figure 2]. After 1 year, a follow-up visit disclosed that the boy had stopped the habit of repetitive tongue thrust and no signs of ulcer reoccurrence. A written informed consent had been obtained from the child’s parents.

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Figure 1:

Riga-Fede disease ulcer before the treatment

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Figure 2:

Riga-Fede disease ulcer after the treatment

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Discussion

Although 60% of the lesions occur on the ventral surface of the tongue, it could be report on other areas such as palate, lip, vestibular mucosa, the floor of the mouth, and gingiva.^[1] RFD had been reported previously with the association of microcephaly in only one case,^[5] other cases described the occurrence of RFD due to neonatal/natal teeth^[6,7] or as a result of tongue tie.^[8] To date, there is no reported case of RFD on the dorsal surface of the tongue. In this case, the RFD affected the dorsal surface – instead of the ventral surface – of the tongue.

RFD treatment could be performed by covering the teeth with Stomahesive wafer strip, but it was not available in the country. Parents had spent loads of money and effort to help their baby have better health. However, they were content by the final outcomes. Furthermore, the boy needs to continue his medical follow-ups and management by his neurologist and audiologist.

Conclusion

The difficult RDF ulcer had been resolved by a conservative treatment (smoothing the sharp edges) which was successful and could be suggested as a possible treatment for similar future conditions. It is apparent that young children are unable to report their medical problems or pain as it’s the case in adults. Moreover, most of the general dental practitioners’ diagnosis is not definitive. Therefore, these cases need to be referred to a pediatric dentist to avoid the consequences of misdiagnosis and malmanagement.