J Pediatr Endocr Met 2014; 27(9-10): 957–960
Patient report Douglas G. Rogers* and Nat Nasomyont
Growth hormone treatment in a patient with Hurler-Scheie syndrome Abstract: A female patient with known Hurler-Scheie syndrome, who underwent hematopoietic cell transplantation, presented with growth retardation and delayed puberty. She started growth hormone (GH) treatment at age 12.33 years, resulting in significantly improved linear growth and predicted adult height. We describe details of her clinical course and literature review of growth pattern as well as GH use in patients with mucopolysaccharidosis I. Keywords: growth hormone; Hurler-Scheie syndrome; mucopolysaccharidosis I. DOI 10.1515/jpem-2013-0340 Received August 21, 2013; accepted March 24, 2014; previously published online May 13, 2014
Introduction Mucopolysaccharidosis type I (MPS I) is an inherited disorder caused by lysosomal alpha-L-iduronidase deficiency, resulting in dermatan sulfate and heparan sulfate accumulation in connective tissues throughout the body. Due to its variable manifestations, MPS I has been subdivided to three phenotypes with decreasing severity: Hurler syndrome (MPS IH), Hurler-Scheie syndrome (MPS IH/S), and Scheie syndrome (MPS IS). An intermediate form of MPS I, Hurler-Scheie syndrome, is classified when the patient has normal developmental milestones at age 24 months, but shows evidence of moderate somatic involvement (1). Onset of somatic manifestations in MPS IH/S is variable but usually present between ages 3 and 8 years with typical survival
*Corresponding author: Douglas G. Rogers, MD, Head of Pediatric and Adolescent Endocrinology, Cleveland Clinic, Desk A-120 9500 Euclid Ave., Cleveland, OH 44195, USA, Phone: +216-445-8048, Fax: +216-636-6761, E-mail: [email protected] Nat Nasomyont: Center for Pediatric and Adolescent Endocrinology, Cleveland Clinic Foundation, Cleveland, OH, USA
to adulthood (2). Clinical features of MPS IH/S include short stature, corneal clouding, mild coarsening of facial features, cardiac abnormalities, umbilical hernia, hepatosplenomegaly, joint stiffening, dysostosis multiplex, and preserved intellectual ability in most cases (1–3). Although hematopoietic cell transplantation (HCT) and enzyme replacement therapy (ERT) have been successful in reducing the progression of some manifestations, such as cardiovascular complications in patients with MPS I, short stature and progressive decrease in height often remain (4–6).
Case report A 15-year-old female patient was born full term by repeat cesarean section with uncomplicated prenatal and perinatal courses. Her birth length was 48 cm. Her early developmental milestones were normal. She presented to medical attention at age 6 years for concern related to muscle weakness. She was also noted to have an abnormal lordotic posture and a protuberant abdomen. Evaluation revealed
Patient report Douglas G. Rogers* and Nat Nasomyont
Growth hormone treatment in a patient with Hurler-Scheie syndrome Abstract: A female patient with known Hurler-Scheie syndrome, who underwent hematopoietic cell transplantation, presented with growth retardation and delayed puberty. She started growth hormone (GH) treatment at age 12.33 years, resulting in significantly improved linear growth and predicted adult height. We describe details of her clinical course and literature review of growth pattern as well as GH use in patients with mucopolysaccharidosis I. Keywords: growth hormone; Hurler-Scheie syndrome; mucopolysaccharidosis I. DOI 10.1515/jpem-2013-0340 Received August 21, 2013; accepted March 24, 2014; previously published online May 13, 2014
Introduction Mucopolysaccharidosis type I (MPS I) is an inherited disorder caused by lysosomal alpha-L-iduronidase deficiency, resulting in dermatan sulfate and heparan sulfate accumulation in connective tissues throughout the body. Due to its variable manifestations, MPS I has been subdivided to three phenotypes with decreasing severity: Hurler syndrome (MPS IH), Hurler-Scheie syndrome (MPS IH/S), and Scheie syndrome (MPS IS). An intermediate form of MPS I, Hurler-Scheie syndrome, is classified when the patient has normal developmental milestones at age 24 months, but shows evidence of moderate somatic involvement (1). Onset of somatic manifestations in MPS IH/S is variable but usually present between ages 3 and 8 years with typical survival
*Corresponding author: Douglas G. Rogers, MD, Head of Pediatric and Adolescent Endocrinology, Cleveland Clinic, Desk A-120 9500 Euclid Ave., Cleveland, OH 44195, USA, Phone: +216-445-8048, Fax: +216-636-6761, E-mail: [email protected] Nat Nasomyont: Center for Pediatric and Adolescent Endocrinology, Cleveland Clinic Foundation, Cleveland, OH, USA
to adulthood (2). Clinical features of MPS IH/S include short stature, corneal clouding, mild coarsening of facial features, cardiac abnormalities, umbilical hernia, hepatosplenomegaly, joint stiffening, dysostosis multiplex, and preserved intellectual ability in most cases (1–3). Although hematopoietic cell transplantation (HCT) and enzyme replacement therapy (ERT) have been successful in reducing the progression of some manifestations, such as cardiovascular complications in patients with MPS I, short stature and progressive decrease in height often remain (4–6).
Case report A 15-year-old female patient was born full term by repeat cesarean section with uncomplicated prenatal and perinatal courses. Her birth length was 48 cm. Her early developmental milestones were normal. She presented to medical attention at age 6 years for concern related to muscle weakness. She was also noted to have an abnormal lordotic posture and a protuberant abdomen. Evaluation revealed
