Presentation
Musculoskeletal
- Myopathy
Rarely, phosphofructokinase deficiency manifests in infancy as congenital myopathy and arthrogryposis with fatal outcome. [ncbi.nlm.nih.gov]
Neurologic
- Infantile-Onset Seizures
Most had KCNQ2 mutations, but two families had SCN2A mutations, which are normally associated with a mixed picture of neonatal and infantile onset seizures. [ncbi.nlm.nih.gov]
- Neonatal Hypotonia
Neonatal hypotonia, seizures beginning at 5 days, and severe retardation were noted in a girl with normal karyotype and biochemical evidence of impaired adrenal function. [ncbi.nlm.nih.gov]
Workup
EEG
- Multifocal Epileptiform Discharges
More multifocal epileptiform discharges in EEG, more abnormal neuroimaging findings, and higher incidence of future developmental delay were noted in the group with later epilepsy. [ncbi.nlm.nih.gov]
- Hypsarrhythmia
All were born at term and discharged home without seizures or concern of encephalopathy, but developed infantile spasms with hypsarrhythmia (or modified hypsarrhythmia) between the ages of 4 and 6 months. [ncbi.nlm.nih.gov]
Other Pathologies
- White Matter Lesions
matter lesions on DWI, particularly around 5 days of life. [ncbi.nlm.nih.gov]
Biopsy
- Liver Biopsy
biopsy specimen were present in normal number and appeared enlarged. [ncbi.nlm.nih.gov]