De Sanctis-Cacchione syndrome (DCS) formerly known as xerodermic idiocy is characterised by cutaneous photosensitivity, microcephaly, mental retardation, short stature, hypogonadism, spasticity, peripheral neuropathy and sensorineural deafness. Here in, we present the case of a four and half years old male child with features of severe acute malnutrition (SAM) with a typical bird like facies and sunken eyes who had history of photosensitive pruritic pigmentary skin lesions on sun exposed areas from a very early age of six months. Gross developmental delay, ataxia, microcephaly, short stature, hypogonadism and cachectic wasting were identified on examination and hypertransaminasemia and hypothyroidism were recorded from biochemical profile. Subsequent visual evoked response and brainstem evoked response audiometry revealed anterior visual pathway dysfunction and bilateral profound sensorineural hearing loss. Magnetic resonance imaging of brain yielded subdural effusion with mass effect in addition to cerebro-cerebral atrophy and demyelination. Skin biopsy further detected dysplastic changes and early signs of squamous cell carcinoma (SCC). Although few cases are reported sporadically throughout the world, to our best of knowledge till date only 11 such cases have been reported completely in Indian medical literature which makes our case report the 12th one with distinctive novel association of subdural effusion.

Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis-Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis-Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

Marriage between close biological kin is not regarded as advantageous in the western world but in other parts of the world, consanguineous unions persist. Consanguineous marriage increases the birth prevalence of individuals with recessive disorders. In Accra, Ghana, consanguinity is beginning to emerge as a significant cause of rare neurological disease at the central referral hospital at Korle Bu in Ghana. Documentation of rare neurological and genetic diseases over a five year period resulting from consanguinity (2010-2015) presenting to the Department of Child Health, Korle Bu Teaching Hospital, Accra. One of the three siblings with zeroderma pigmentosum was identified as the rare De Sanctis Cacchione syndrome which has not been previously reported from West Africa. Five cases of spinal muscular atrophy including three consecutive siblings with the disease, MCAD deficiency (1), inborn errors of metabolism (1), ceroid lipoid fuscinosis (6), a case of Meckel Gruber syndrome. Rare neurological disease occurs in West African communities as a result of consanguinity.

De Sanctis-Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pigmentosum (XP). These patients with XP are of short stature, have mental disabilities, and develop progressive neurologic degeneration because of a severe inability to repair damaged DNA. Herein, we will present the case of a 9-year-old boy who had DSC syndrome with microcephaly, severe psychomotor retardation, ataxia, and hearing loss. The cutaneous manifestations included giant squamous cell carcinoma (SCC) that covered the eye, multiple facial SCCs, and pigment changes on sun-exposed areas. In addition, we include a review of reported rare cases and a brief discussion of disease management.