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

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.