Table 6.

Treatment of Manifestations in Individuals with MPPH Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Neurosurgical
complications
(hydrocephalus &
cerebellar tonsillar
ectopia) 		Neurosurgical referral for those w/:
  • Rapidly enlarging OFC
  • Obstructive hydrocephalus
  • Symptoms of ↑ intracranial pressure
  • Progressive or symptomatic CBTE or Chiari malformation
Early treatment of hydrocephalus may ↓ risk for progressive CBTE, but data to determine most appropriate neurosurgical mgmt are lacking.
Feeding difficulties
  • Eval w/feeding specialist &/or gastroenterologist
  • Dietary modification &/or placement of a gastrostomy tube as needed
  • Speech therapy for difficulties w/swallowing & feeding
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Polydactyly Surgical treatment per orthopedist
Ophthalmologic
involvement 		Treatment per ophthalmologist
Vision services
  • Children: through early intervention programs &/or school district
  • Adults: referral to low vision clinic &/or community vision services
Central visual
impairment 		No specific treatmentEarly intervention program to stimulate visual development
Cardiac anomalies Treatment per cardiologist & cardiothoracic surgeon
Thyroid abnormalities Treatment per endocrinologist
Renal anomalies Treatment per nephrologist
Medulloblastoma Treatment per neurooncologist
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; CBTE = cerebellar tonsillar ectopia; DD/ID = developmental delay / intellectual disability; OFC = occipital frontal circumference

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: MPPH Syndrome

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