Mucopolysaccharidosis (Hurler / Hunter) - Bedside Clinical Proforma

1. Patient Demographics & Storage History

Name: Patient Name | Age: Years / Months | Sex: Male / Female
Consanguinity: Present (Degree: ...) / Absent | Family history of affected siblings/uncles
Presenting Complaints:
- Progressive coarsening of facial features (onset: ... months)
- Noisy breathing / Stertor / Obstructive sleep apnea
- Chronic purulent / mucoid nasal discharge (rhinitis)
- Abdominal distension / Hepatosplenomegaly / Inguinal / Umbilical hernias
- Joint stiffness / Inability to extend fingers (Claw hands)
- Spinal prominence / Bending of back (Gibbus deformity)
- Corneal clouding / Vision problems
- Developmental plateauing / Neurocognitive regression

Head: Dolichocephaly / Macrocephaly (Head circumference: ... cm, Z-score: ... SD)
Forehead: Prominent frontal bossing / Thickened scalp
Hair & Eyebrows: Coarse, dry scalp hair / Bushy eyebrows with Synophrys
Nose: Depressed, flattened nasal bridge / Anteverted nostrils / Chronic rhinorrhea
Mouth: Thick fleshy lips / Macroglossia / Gingival hyperplasia / Widely spaced peg-shaped teeth
Ears: Thickened pinnae / Chronic otitis media / Hearing impairment
Eyes (Slit-Lamp): Corneal Clouding: Present (Hurler MPS I) / Crystal Clear (Hunter MPS II)

Spine: Thoracolumbar Kyphosis / Acute angular Gibbus deformity at L1-L2
Hands: Claw Hand Deformity (Fixed flexion contractures of PIP and DIP joints)
Upper Extremities: Restricted elbow extension (... degrees) / Broad spade-like hands
Lower Extremities: Flexion contractures of hips and knees / Genu valgum / Waddling stiff gait
Thorax: Barrel-shaped broad chest / Spatulate ribs / Flared lower rib cage

Abdomen: Distended, protuberant / Umbilical hernia: Present / Inguinal hernia repair scars
Liver: Palpable ... cm below costal margin | Liver span: ... cm | Firm, smooth, non-tender
Spleen: Palpable ... cm below costal margin | Firm, smooth
Cardiovascular: Normal S1, S2 | Murmur: Mitral Regurgitation / Aortic Regurgitation (Valvar thickening)
Respiratory: Upper airway stertor / Obstructive sleep apnea (AHI: ... events/hour)
CNS & Myelopathy: Motor tone: Normal / Spastic | DTRs: Brisk / Normal | Babinski: Flexor / Extensor
Cervical Spine Myelopathy Screen: Atlantoaxial subluxation / Odontoid hypoplasia

Urinary Glycosaminoglycans (GAGs):
- Quantitative DMB assay: ... mg GAG/g creatinine (Elevated)
- Qualitative GAG electrophoresis: Dermatan Sulfate & Heparan Sulfate (MPS I / II)
Enzyme Assay (Gold Standard):
- Leukocyte Alpha-L-Iduronidase Activity: ... nmol/hr/mg (Deficient in Hurler MPS I)
- Leukocyte Iduronate-2-Sulfatase Activity: ... nmol/hr/mg (Deficient in Hunter MPS II)
Radiological Dysostosis Multiplex Survey:
- Spine X-ray: Inferior anterior beaking of L1-L2 vertebrae / Hypoplastic odontoid
- Chest X-ray: Oar-shaped paddle ribs / Short horizontal clavicles
- Skull X-ray: Large dolichocephalic skull / J-shaped sella turcica
- Pelvis X-ray: Flared iliac wings / Oblique shallow acetabula
- Hand X-ray: Bullet-shaped phalanges / Proximal pointing of metacarpal bases

Enzyme Replacement Therapy (ERT): Recombinant Laronidase 0.58 mg/kg IV weekly
Hematopoietic Stem Cell Transplantation (HSCT): Indicated in MPS IH before 2.5 years (prevents CNS regression)
Airway & Anesthesia Warning: CRITICAL DIFFICULT AIRWAY | Fiberoptic intubation + in-line cervical stabilization
Neurosurgery: Posterior cervical decompression for craniocervical stenosis
Nocturnal CPAP / BiPAP for Obstructive Sleep Apnea