Title

Study of PEHO syndrome and identification of the causative genetic defects.

Read more about the study HERE

To participate, please download the Project Proforma HERE.

When completed, please return to:

Dr Manali Chitre
Consultant Paediatric Neurologist
Box 108, Child Development Centre
Cambridge University Hospitals Foundation NHS Trust
Hills road
Cambridge
CB22QQ

Lead Investigator

i) Dr Manali Chitre
Consultant Paediatric Neurologist
Cambridge University Hospitals Foundation NHS Trust

ii) Dr Alasdair Parker
Consultant Paediatric Neurologist
Cambridge University Hospitals Foundation NHS Trust

iii) Prof Geoff Woods
Honorary Consultant and University Professor of Human Genetics

Cambridge University Hospitals Foundation NHS Trust

Case Definition

Patients with a clinical phenotype consistent with PEHO or PEHO-like syndrome.  

Necessary Criteria	Supportive Criteria	Features that argue against the PEHO syndrome
Infantile, usually neonatal hypotonia	Subtle dysmorphic features with narrow forehead, epicanthic folds, short nose, open mouth, receding chin, tapering fingers	Microcephaly at birth
Convulsive disorder manifesting with myoclonic jerks and infantile spasms	Oedema of the face and limbs, especially in early childhood	Abnormal gyral formation in neuroradiological studies
Profound psychomotor retardation with severe hypotonia; absence of motor milestones and speech	Brisk tendon reflexes in early childhood	Predominant spasticity in infancy
Absence or early loss of visual fixation with atrophy of optic discs by 2 years of age; normal electroretinogram, extinguished visual evoked potentials	Abnormal brainstem auditory evoked potentials	Reappearance of visual contact after cessation of infantile spasms
Progressive brain atrophy in neuroimaging studies, particularly in the cerebellum and brainstem; milder supratentorial atrophy	Absent cortical responses of somatosensory evoked potentials	Hepato/splenomegaly or storage disorder in histological studies
	Slow nerve conduction velocities in late childhood
	Dysmyelination in magnetic resonance imaging

 

A child may also be given a provisional diagnosis of PEHO-like syndrome if they have all the necessary features of PEHO, but display some features that argue against a diagnosis of PEHO. 

Age Range for Cases

• Lower limit: 0 years
• No upper age limit

Inclusion Criteria:

• To be included in this study, children must meet the diagnostic criteria for either PEHO or PEHO-like syndrome. For a diagnosis of PEHO a child must have all of the necessary diagnostic criteria (table 1).
• Where children have died before the age of 2 years, the diagnosis of PEHO syndrome may be assigned in the absence of optic atrophy as this feature is progressive and not expected to be present in infancy.

Exclusion Criteria:

• Children will be excluded if they do not have all the features of PEHO and have any of the features that argue against the diagnosis.