Table 5. [Recommended Evaluations Following Initial Diagnosis in Individuals with MPPH syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Physical exam w/particular attn to head size (OFC)
Neurologic	Assessment by pediatric neurologist w/eval of suspected seizures as indicated	To incl baseline brain MRI & careful eval for medulloblastoma, incl diffusion-weighted imaging to differentiate early neoplastic transformation w/in dysplastic cerebellar tissue & early consideration of contrast-enhanced studies in suspicious cases In the presence of hydrocephalus &/or cerebellar tonsillar ectopia, full spinal MRI to evaluate for syringomyelia or syrinx formation
Gastrointestinal/ Feeding	Feeding assessment by feeding specialist, nutritionist, & gastroenterologist for evidence of chewing & swallowing difficulties & dysphagia	Consider eval for gastric tube placement as needed.
Development	Developmental assessment	To incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Musculoskeletal	Referral to orthopedist as needed for polydactyly
Eyes	Ophthalmologic eval	To assess for vision abnormalities
Cardiovascular	Echocardiogram	To evaluate for structural cardiac defects
Endocrine	TSH & free T4	To assess for hypothyroidism
Measure glucose levels in infants.	To assess for evidence of hypoglycemia
Measurement of IGF1 & IGFBP3	Indirect assessment for GHD in those w/growth restriction or poor linear growth
Genitourinary	Renal ultrasound exam	To evaluate for structural renal defects
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of MPPH syndrome in order to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

Constitutional

Physical exam w/particular attn to head size (OFC)

Neurologic

Assessment by pediatric neurologist w/eval of suspected seizures as indicated

To incl baseline brain MRI & careful eval for medulloblastoma, incl diffusion-weighted imaging to differentiate early neoplastic transformation w/in dysplastic cerebellar tissue & early consideration of contrast-enhanced studies in suspicious cases
In the presence of hydrocephalus &/or cerebellar tonsillar ectopia, full spinal MRI to evaluate for syringomyelia or syrinx formation

Gastrointestinal/
Feeding

Feeding assessment by feeding specialist, nutritionist, & gastroenterologist for evidence of chewing & swallowing difficulties & dysphagia

Consider eval for gastric tube placement as needed.

Development

Developmental assessment

To incl motor, adaptive, cognitive, & speech/language eval
Eval for early intervention / special education

Musculoskeletal

Referral to orthopedist as needed for polydactyly

Eyes

Ophthalmologic eval

To assess for vision abnormalities

Cardiovascular

Echocardiogram

To evaluate for structural cardiac defects

Endocrine

TSH & free T4

To assess for hypothyroidism

Measure glucose levels in infants.

To assess for evidence of hypoglycemia

Measurement of IGF1 & IGFBP3

Indirect assessment for GHD in those w/growth restriction or poor linear growth

Genitourinary

Renal ultrasound exam

To evaluate for structural renal defects

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of MPPH syndrome in order to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

From: MPPH Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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