Transient Hyperreninemic Hypertension and Thalamic Infarcts in an Infant with Hurler-Scheie Syndrome

Abstract

MO Swar, BV Srikrishna, CS Manjunath, Transient Hyperreninemic Hypertension and Thalamic Infarcts in anInfant with Hurler-Scheie Syndrome. 2000; 20(1): 32-34 Mucopolysaccharidosis (MPS) type IH/S is one of the lysosomal storage diseases that results from accumulation in the lysosome of glycosaminoglycans that would normally be degraded by hydrolytic enzymes present in lysosomes. The enzyme involved in MPS IH/S is α-L-iduronidase, and its deficiency leads to intracellular accumulation of partially degraded molecules that cause cell dysfunction and death. In contradistinction to other types of mucopolysaccharidoses, MPS IH/S is characterized by its slow progress and the occurrence of complications and death in the twenties or thirties. The mode of inheritance is autosomal recessive, and the disease affects the skeletal system, cardiovascular system, liver, spleen, tendons, joints and central nervous system, leading to physical and mental handicaps. Case ReportA one-year-old Saudi girl presented with respiratory tract infection, for which she had been admitted to hospital repeatedly. She had a history of umbilical and anterior diaphragmatic hernia of Morgagni repaired at the age of eight months, followed by an incisional hernia. She was a product of consanguineous parents who had two other normal children. The perinatal period was uneventful.Physical examination of the patient revealed normal weight, height and head circumference for age, scaphocephaly, coarse facial features that included thick supraorbital ridges, heavy eyebrows, wide-apart squinted eyes, hazy cornea, depressed nasal bridge, stuffy nose, thick lips, thick alveolar margins and spaced teeth. Midline scar and an incisional hernia were evident on the abdominal wall. Liver was 2 cm below the right costal margin and the spleen was just palpable. Genitalia were normal. There were extensive Mongolian blue spots on the lower back and no kyphosis. She had claw hands, genu valgum and delayed milestones. Using a modified Denver Developmental Chart, her intelligence and developmental quotients were just below 75%. There was bilateral eardrum bulge and type B tympanogram. The cardiovascular system was normal.In view of these findings, investigations were carried out, including 24-hour urine mucopolysaccharides, the level of which was more than sixfold the normal value. Alder-Reilly bodies were not seen in the blood smear. Blood urea, electrolytes, complete blood count, fasting blood glucose and urine culture were normal.Six months later, the patient was re-admitted with lethargy and refusal to feed that followed an attack of respiratory disease. Examination revealed a blood pressure of 220/160 mm Hg, with no appreciable difference or delay in the lower limbs. ECG showed left ventricular hypertrophy (LVH) and was confirmed by echocardiography, which showed dysfunction of both ventricles. Chest examination revealed impaired air entry in the left lower part posteriorly. Chest x-ray showed atelectasis of the left lower lobe, for which the patient received antib...