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PEHO [Shared]

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by

Ali Alatas

on 16 July 2017

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Transcript of PEHO [Shared]

Comparing both syndromes reveals clinical and radiological similarities
EEG: Hypsarrhythmia
Inheritance
Head and Neck
Abdomen
Neurology
Muscle and Soft Tissue
Skeletal
Autosomal recessive
Finish ancestry
PEHO
Autosomal recessive
Sepharadi-Jews ancestry
PCCA
Progressive microcephaly
PEHO
Progressive microcephaly
PCCA
HEAD
Pear shaped face
Bi-temporal narrowing
Receding chin
Full cheeks
PEHO
Non-dysmorphic features
PCCA
FACE
Epicanthal folds
Loss of visual fixation in the first months of life
Optic atrophy by age of 2 years
Absent ERG
PEHO
Cortical blindness
Rotatory nystagmus
No optic atrophy
Normal ERG
PCCA
EYES
Short nose
PEHO
PCCA
NOSE
Open mouth
Curved or tented upper lip
PEHO
PCCA
MOUTH
Poor feeding
PEHO
Gastroesophageal reflux
PCCA
GASTROINTESTINAL
Tapered digits
PEHO
Severe progressive contractures
PCCA
HANDS
Peripheral edema
PEHO
PCCA
Lack of milestones development
Progressive infantile encephalopathy
Severe hypotonia
Profound mental retardation
Seizures
Hypsarrhythmia in EEG
Hyperreflexia
Progressive brainstem and cerebellar atrophy
Absent cortical responses to somatosensory evoked potentials
Dysmyelination in MRI
Severe neuronal loss in inner granular layer of the cerebellum
PEHO
Lack of milestones development
Progressive infantile encephalopathy
Progressive spastic quadriplegia
Profound mental reardation
Seizures
Multi focal spikes and polyspikes in EEG
Progressive cerebellar and cerebral atrophy
Choreiform movements
Intact brainstem and basal ganglia
MRI shows involvement of gray and white matter
Sleep disorder
Severe irritability
PCCA
CNS
Ronen Hady-Cohen
Hyperbaric Oxygen Treatment
Pressure Chambre
Full transcript