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Table 1 Close monitoring of patients with mucopolysaccharidosis type II is necessary.

From: Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Presenting feature

Assessment method

General appearance

 

Enlarged head

Clinical examination (including measurement of head circumference),* family history*

Coarse facial features (broad nose with flared nostrils, prominent supraorbital ridges, large jowls, thickened lips)

Clinical examination*

Irregular, peg-shaped teeth

Clinical examination*

Hyperplasic and hypertrophic gingival tissue

Clinical examination*

Cardiovascular system

 

Right and left ventricular hypertrophy

Echocardiogram,* chest X-ray,* cardiac MRI,† CT scan†

Arrhythmia, irregular heartbeat

Clinical examination,* electrocardiogram,* Holter monitoring†

Heart failure

Echocardiogram,* electrocardiogram,* CT scan,† metabolic or perfusion imaging (positron emission tomography and single photo emission computer tomography)†

Changes to mitral, aortic, tricuspid and pulmonary valves

Echocardiogram,* cardiac MRI†

Hypertension

Clinical examination*

Nervous system

 

Developmental delay

Medical history (achievement of developmental milestones),* neurobehavioral assessment/cognitive testing,* measurement of intelligence quotient†

Progressive mental impairment (cognitive dysfunction)

Neurobehavioral assessment/cognitive testing,* measurement of intelligence quotient†

Gait disturbance

Evaluation of sitting and standing posture and walking ability (6-minute walk test),* MRI of the brain and cranio-cervical junction†

Seizures

MRI of the brain and cranio-cervical junction*, electroencephalography†

Behavioural disturbances (over activity, obstinacy, aggression)

Neurobehavioral assessment/cognitive testing,* measurement of intelligence quotient†

Carpal tunnel syndrome

Electrophysiological testing of nerve conduction velocity†

Eye

 

Loss of vision/visual field

Best-corrected visual acuity test,* slit lamp biomicroscopy,* visual field (automated static or kinetic)*

Elevated intraocular pressure

Applanation tonometry*

Retinal pigmentary degeneration

Fundoscopy,* retinoscopy/refractometry,* visual field,* optical coherence tomography,† electroretinography†

Optic nerve involvement (optic disc swelling, papilloedema, optic atrophy)

Fundoscopy,* visual field,* optical coherence tomography,† visual-evoked potential†

Musculoskeletal system

 

Short neck and short limbs

Clinical examination (including auxological evaluation)*

Short stature

Clinical examination (including auxological evaluation)*

Arthropathy, joint stiffness and contractures

6-minute walk test,* joint range of motion (shoulders, elbows, wrists, knees, hips and ankles)*

Abnormal bone thickness and shape (e.g. malformation of tarsal bones, pelvis, and vertebral bodies)

X-ray (spine, hips and pelvis)*, radiography†

Claw-like hands

Clinical examination*

Spine deformities (kyphosis, scoliosis)

Evaluation of standing and sitting posture and walking ability (6-minute walk test),* cervical spine flexion/extension,* MRI of the cervical spine,† X-ray of the lumbar spine†

Ear, nose and throat

 

Enlarged, protruding tongue

Clinical examination*

Recurrent ear infections

Medical history (frequency of ear infections),* otological and audiological examinations*

Progressive hearing loss (conductive and sensorineural)

Otological and audiological examinations*

Frequent upper respiratory tract infections

Medical history (frequency of respiratory infections),* vital signs (pulse, respiratory rate, blood pressure, and oxygen saturation in air)* spirometry to measure FVC*

Thick nasal and tracheal secretions

Examination of upper airway*

Airway

 

Progressive airway obstruction, tracheobronchomalacia

Examination of upper airway for hypertrophy of the tonsils and adenoids, and tracheal deformities*

Sleep apnoea

Sleep study (assessment of thoracic and abdominal motion; pulse oximetry to measure arterial oxygen saturation and pulse rate; electrocardiography)*

Skin

 

Thickened and inelastic skin

Clinical examination*

Pebbly, ivory-coloured skin lesions

Clinical examination*

Abdomen/gastrointestinal system

 

Hepatomegaly

Clinical examination,* abdominal ultrasound,* abdominal MRI†

Splenomegaly

Clinical examination,* abdominal ultrasound,* abdominal MRI†

Bladder obstruction

Abdominal ultrasound*

Chronic diarrhoea

Medical history*

Umbilical and/or inguinal hernias

Clinical examination*

Psychological wellbeing

 

Poor quality of life

Patient interview,* patient-completed quality of life questionnaires (e.g. Child Health Assessment Questionnaire Disability Index Score [CHAQ DIS], Short Form 36 Health Survey [SF-36])†

  1. Characteristic features of mucopolysaccharidosis type II and the methods available to assist diagnosis [2, 3, 11, 12, 46, 47, 57, 75, 80, 81, 84, 88, 89, 97, 98, 108–129].
  2. All assessments are subject to patient cooperation; *Essential assessment. †Optional assessment.
  3. CT = computed tomography. FVC = forced vital capacity. MRI = magnetic resonance imaging.