Abstract

Background: Goldberg Shprintzen syndrome is a very rare autosomal recessive syndrome associated with mental retardation, a distinctive facial abnormalities, Hirschsprung disease and neurological abnormalities. In a previous publication, we described the occurrence of the thirty fourth and thirty fifth cases of the syndrome in two Iraqi brothers. There are no known therapies that are associated with improvement in the neurologic disability and mental retardation in Goldberg Shprintzen syndrome. The aim of this paper is to describe the successful treatment of one of the Iraqi brothers with a novel therapeutic approach.

Patients and Methods: The younger brother was treated with aim of improving neurological abnormalities which included spasticity and inability to walk without support and also to improve mental disabilities which included poor cognitive abilities, and the lack of speech development. The younger brother was treated with an evidence-based therapeutic approach based on our extensive experiences with treatment of brain damage and mental retardation.

Results: After about six months, the older brother who received only nutritional support and muscle relaxants showed slight improvement in spasticity and general health, but he didn’t experience any improvement in motor and mental-cognitive disabilities, and he remained unable to stand and didn’t show any evidence of speech development. Treatment of the younger was associated with significant improvement in cognitive abilities and his speech development was initiated and improved. He was able to walk alone, and his fine motor skills showed marked improvement and was able to drink from cup and feed himself with as spoon. He was trying to copy a line and a circle. Treatment was not associated with any side effects.

Conclusion: There are very limited experiences with treatment of very rare disorders like Goldberg-Shprintzen syndrome. However, we have shown in this research paper that the use of evidence-based multi-factorial therapies was very beneficial in this condition.

Keywords: Goldberg-Shprintzen Syndrome; Novel Therapies

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