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Saturday, July 8, 2017

Case Study and Case Report 2017; 7(3): 53 - 64.

Mól N, Ptak K, Zasada M, Końska K, Pilch M, Knapp A, Kwinta P. Hunter Syndrome complicated by a communicating hydrocephalus and arachnoid cysts at a very young age. Case Study Case Rep. 2017; 7(3): 53 - 64.


Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disease caused by deficient activity of iduronate 2-sulfatase, which regulates  lysosomal catabolism of the glycosaminoglycans. As a consequence, undegraded dermatan and heparan sulfates accumulate in all the tissues and organs of the body, including the central nervous system, where they cause irreversible changes. Some of the neurological manifestations include behavioral problems, mental retardation or cognitive deterioration, ventriculomegaly, hydrocephalus, compressive myelopathy, seizures or hearing loss. This report describes an infant boy diagnosed with MPS II who presented with an acute communicating hydrocephalus and arachnoid cysts at 9 months of age. The patient was diagnosed with MPS II shortly after birth because of his positive family history. At that time he did not present any physical manifestation of the disease, all the imaging studies of the head, abdomen and cardiac function were normal. He was started on enzyme replacement therapy with Elaprase®, which he received every week at our Clinic. Such frequent visits allowed for an immediate diagnosis of sudden increase of the intracranial pressure and the timely surgical intervention. To the best of our knowledge, this is the first reported case of a patient with MPS II, who developed acute hydrocephalus requiring surgical implementation of a ventriculo-peritoneal shunt at such a young age.

Keywords: Hunter Syndrome, hydrocephalus, arachnoid cyst

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