|Year : 1999 | Volume
| Issue : 3 | Page : 145-146
De sanctis cacchione syndrome
Najeeba Riyaz, A Riyaz
Source of Support: None, Conflict of Interest: None
A case of de Sanctis Cacchine syndrome in a female infant is presented.
Keywords: De Sanctis Cacchione syndrome, Xeroderma, pigmentosum
|How to cite this article:|
Riyaz N, Riyaz A. De sanctis cacchione syndrome. Indian J Dermatol Venereol Leprol 1999;65:145-6
| Introduction|| |
De Sanctis Cacchione syndrome is an extremely rare autosomal recessive condition characterized by xeroderma pigmentosum, ocular, neurologic and somatic abnormalities.
| Case Report|| |
A 9-month-old female baby, the only child of 2° consanguineous parents, was seen in the department of Paediatrics with history of generalized tonic clonic seizures of 2 months duration. Her antenatal period was uneventful. She was an SGA (small for gestational age) baby and had asphyxia neonatorum. All mile stones of development were grossly delayed.
She developed multiple pigmented and depigmented spotty lesions on the face at the age of 3 months. The lesions gradually increased in number and also appeared on the trunk and extremities. She had photophobia also.
On examination she was a lethargic, sick looking baby weighing just 3 kg. She had microcephaly, head circumference being 34.5 cms. She also had hypotonia, hyporeflexia and splenomegaly.
Dermatological examination showed multiple freckles, depigmented macules and telangiectasia on the face, upper trunk and extremities. Scalp hair was brownish and eyebrows were hypopigmented and she had ichthyosis. Nails were normal. Skin biopsy was consistent with xeroderma pigmentosum.
In view of the skin lesions, photophobia, microcephaly, mental retardation, delayed milestones and seizures, a diagnosis of De-Sanctis Cacchione syndrome was made.
| Discussion|| |
In 1932, De Sanctis and Cacchione reported three brothers who had cutaneous and ocular manifestations of classic xeroderma pigmentosum and additional neurologic and somatic abnormalities. The De-Sanctis Cacchione syndrome includes microcephaly with progressive mental deterioration, hyporeflexia or areflexia, choreoathetosis, ataxia, spasticity, shortening of Achilles tendon with eventual quadriparesis, markedly retarded growth and immature sexual development. Progressive sensorineural deafness, abnormal electroencephalographic findings and epilepsy can also occur.
The complete De Sanctis Cacchione syndrome has been reported in very few patients with xeroderma pigmentosum. However, many patients have one or more of its neurologic features.
Of the 286 xeroderma pigmentosum patients reported before 1949, 41 had severe neurologic complications. Six of 15 patients reported in 1974 had neurologic symptoms. The most severely affected patients have onset of neurologic symptoms in infancy, as in our patient.
Untreated patients with xeroderma pigmentosum often die at an early age from the consequences of multiple cutaneous neoplasms with local invasion, metastasis, or secondary infection. Patients with onset in infancy have a particularly poor prognosis. Affected siblings tend to have similar clinical disease including presence or absence of neurologic involvement.
| References|| |
|1.||De Sanctis C, Cacchione A. L' Idiozia xerodermica. Riv Sperm Freniatr 1932;56:269-292. |
|2.||Siegelman M, Sutow WW. Xeroderma pigmentosum. J Pediatr 1965;67:625-630. |
|3.||Larmande A, Timsit E. A propos de 20 cas de xeroderma pigmentosum. Algeric Medicals 1955;59:557-562. |
|4.||Robbins JH, Kraemer KH, Lutzner MA, et al. Xeroderma pigmentosum: An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 1974;80:221-248. |