hunter syndrome mucopolysaccharidosis type ii authors: meliţ lorena elena – md, pediatrics...
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HUNTER SYNDROME MUCOPOLYSACCHARIDOSIS TYPE
II
Authors: Meliţ Lorena Elena – MD, Pediatrics resident
Mărginean Maria, 3rd year of General Medicine
Scientific supervizor: Lecturer Dr. Duicu Carmen
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Definition: Hunter syndrome, or mucopolysaccharidosis type II (MPZ II), is a lysosomal storage disease, caused by a deficient, or absent enzyme, iduronate-2-sulphatase.
The syndrome has X-linked recessive inheritance.
The accumulated substrate in Hunter’s syndrome is heparan sulphate and dermatan sulphate.
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EPIDEMIOLGY AND INCIDENCE
2,000 people afflicted with Hunter syndrome worldwide
500 of whom live in USA
incidence among males of approximately 1 in 130.000 male live births (study performed in United Kingdom)
8 cases in Romania (the present case= the 77thth)
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SIGNS AND SYMPTOMS
first symptoms: abdominal hernias, ear infections, runny noses and colds
distinctive coarseness in the facial features: prominent forehead, a nose with a flattened bridge, enlarged tongue
thickening of the heart valves and walls, obstructive airway disease, large liver and spleen, joint stiffness, ivory-colored skin lesions
mental retardation
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DIAGNOSIS
time of diagnosis: 2 to 4 years of ageclinical diagnosisadditional laboratory test: the idorunate-
2-sulfatase activity in serum, white blood cells, or fibroblast from skin biopsy
genetic test: mutation in the iduronate sulphatase gene
laboratory screening test: urine test for GAG (low sensibility)
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TREATEMENT
palliative treatment: surgery, psychiatry, physiotherapy
bone marrow graft and hematopoietic stem cell transplantation - interventional risk, no influence on cognitive deterioration
Idursulfase (Elaprase) – enzyme replacement treatment (a purified form of the lysosomal enzyme iduronate-2-sulphatase)
experimental treatment: intrathecal injections of a more concentrated dose of Idursulfase
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CASE REPORT
A 2.7 year-old boy admitted in 2012 in The Emergeny Clinical Hospital for Children-Cluj Napoca with the suspicion of a storage disorder
The first suspicion of a storage disorder was revealed around the age of 2-in Pediatric Clinic from Tg Mures based on clinical features!- the parents refused to believe it- they came back 8 months later when they were sent to Cluj Napoca for diagnosis confirmation
Past medical history: recurrent respiratory tract recurrent respiratory tract infectionsinfections and frequent ear infectionsfrequent ear infections.
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CLINICAL EXAMINATION
high stature high stature (SDS+3,46)
moderately overweight (+25.97% on his height)
short neck
coarse facial features, prominent forehead, depressed nasal bridge
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CLINICAL EXAMINATION
small stubby fingers with flexion of distal interphalangeal joints, joint stiffness
protruding abdomen with umbilical hernia
enlarged liver and spleen
mild mental retardation
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PARACLINICAL TESTS
Cl. Mainz plasma iduronat sulphatase= 6, 7986 nM/ml/24h (NV = 300 – 800)
Cl. Rostock: plasma iduronat sulphatase = 1,3 µmol/l/h (NV ≥2 )
Gene IDS: intron 3 (c.419-2A>G)-hemizygote mutation fist and hand radiography: bone age adequate for 2 years
old, faced methaphises thoracal radiography: without pleuro-pulmonar modifications,
no radiological modifications in the heart, slimmer costal arcs at vertebrocostal joints
spinal column radiography: bent for superior angled lumbar kyphosis, lumbar paravertebral bodies with an anterior aspect of beak
radiography of the pelvis: ‘chalice’ shaped pelvis with iliac bones more developed than the ischiopubiens, horizontal cotiloid brow, deformed, bent for bilateral coxofemoral contortion, more obvious on the left. Bilateral coxa valga.
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PARACLINICAL TESTS
forearm and hand radiography: forearm bones with shorter diaphysis without other modifications, metacarpal bones with angular diaphysis, distal phalanges in flexion. Bone age corresponding for 3 years old. Suggestive aspect for MPZ II.
echocardiography: Aortic Insufficiency-first degree. Mitral Insufficiency-first degree. Light ventricular hypertrophy.
abdominal ultrasound: Small enlargement of the liver and spleen.
eye bottom exam: contracted papilla with a small central excoriation in the right eye, normal vassal caliber, free macula, without reflex, thin retina with the visibility of the choroidian array.
oto-rhino-larynx exam: no pathological aspects
blood tests – biochemistry and hematology: normal values, less the immunogram: Ig A level= 0
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DIAGNOSIS
Mucopolysaccharidosis type II
Moderate psychical retardation
Craniofacial dismorphism
Aortic insufficiency I degree
Mitral insufficiency I degree
Light ventricular hypertrophy
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TREATMENT
Life dietary according to age
Substitutive enzyme treatment with Elaprase (iduronate-2-sulphatase) 0,5 mg/kg/dose/week, 1 PEV once a week
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EVOLUTION and PROGNOSIS
Weekly treatment with Elaprase in the Pediatric Clinic of Tg. Mures Emergency County Hospital
Clinical examination every week – favorable evolution under substitutive enzyme treatment
Psychiatric evaluation: some small progresses were noticed, but generally his psychic status is stationary
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Paraclinical tests – 26th of February
ALPH
227 U/L
Ca
2.16 mmol/L
Ir
14.36 µmol/L
AST
23.2 U/L
ALT
13.3 U/L
IGA-2
3 mg/dL
IGG-2
799 mg/dL
IGM-2
82 mg/dL
LDH
212 U/L
Mg
0.69 mmol/L
Urea
17.4 mg/dL
BIOCHEMISTRY
Erythrocytes sedimentation rate = 5 mm/h
WBC
6 590/µL
NEUT
2 670/µL
LYMP
3 190/µL
MONO
380/µL
EO
33O/µL
BASO
20/µL
HGB
11.7 g/dL
HCT
33.0 %
MCV
75.0 fL
MCH
26.6 pg
MCHC
35.5 g/dL
RDW-CV
13.0 %
RBC
4 4000*10³/µL
PLT
212*10³/µL
HEMATOLOGY
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Paraclinical reevaluation
Abdominal ultrasound (23.04.2014): moderate enlargement of the liver and spleen. (Senior Lecturer Dr. Mărginean Oana)
Ecocardiography (30.04.2014): minor aortic insufficiency, minor mitral insufficiency. (Dr. Muntean Iolanda)
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PROGNOSIS
Even though the evolution is stationary, the prognosis of this patient is not a good one because unfortunately, Hunter syndrome is a chronic disease without any curative treatment.
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Faith makes everything possible, love makes everything easy!