Internal Medicine

0521779407-14 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:16

1000 Mucopolysaccharidoses

MUCOPOLYSACCHARIDOSES

GREGORY M. ENNS, MD

history & physical

History

■history of consanguinity or family history of disease

■autosomal recessive or X-linked inheritance (Type II)

Signs & Symptoms

■most appear normal at birth with first signs in infancy

■wide spectrum of clinical severity – CNS symptoms appear later in

MPS III, normal IQ in MPS IS, IV, VI, prominent skeletal dysplasia in

MPS IV

■Common abnormalities: progressive mental deterioration, coarse

features, macrocephaly, cloudy corneas, hearing loss, otitis media

with effusion, chronic rhinitis, deafness, gum hypertrophy, obstruc-

tive airway disease, kyphoscoliosis, gibbus, claw hand, joint contrac-

tures, carpal tunnel syndrome, hepatosplenomegaly, umbilical and

inguinal hernias

■silent cardiac abnormalities common late features (esp. mitral & aor-

tic valve disease, valve thickening, coronary artery narrowing, endo-

cardial fibroelastosis)

■Occasional abnormalities: hyperactivity, aggressive behavior,

seizures, hydrocephalus, nystagmus, glaucoma, spinal cord com-

pression, hydrops fetalis (MPS I, IVA, VII), neonatal/infantile car-

diomegaly (MPS I, VI), diarrhea

Classification

■MPS Type: IH

➣Syndrome: Hurler

➣Enzyme deficiency: alpha-L-iduronidase

➣MPS excretion: DS, HS

■MPS Type: IS

➣Syndrome: Scheie

➣Enzyme deficiency: alpha-L-iduronidase

➣MPS excretion: DS, HS

■MPS Type: IHS

➣Syndrome: Hurler/Scheie

➣Enzyme deficiency: alpha-L-iduronidase

➣MPS excretion: DS, HS