Neurological manifestationsNeurological manifestations are among the most serious for paediatric patients with hypophosphatasia. These neurological manifestations can, for example, be:

  • Vitamin B6-related seizures
  • Epileptic encephalopathy
  • Craniosynostosis with associated complications such as increased intracranial pressure, optic nerve damage and/or papilloedema
Beaten copper appearance and craniosynostosis
Beaten copper appearance and craniosynostosis  
Rockman-Greenberg C. 2013


Impaired growth can also lead to neurological consultation. Children with hypophosphatasia often exhibit delayed motor development or completely missed motor milestones.

In infants, vitamin B6-related seizures are an poor prognostic sign and are related to mortality in most cases.

Balasubramaniam S et al. J Inherit Metab Dis 2010; 33 (Suppl 3): 25-33.
Baumgartner-Sigl S et al. Bone 2007; 40: 1655-1661.
Collmann H et al. Childs Nerv Syst 2009; 25: 217-223.
Hofmann C et al. Bone 2013; 55: 150-157.
Mohn A et al. Acta Paediatr 2011; 100: 43-46.
Rockman-Greenberg C. Ped Endocrinol Rev 2013; 10 (Suppl 2): 380-388.


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SYMPTOMS AND CONDITIONS
ASSOCIATED WITH HYPOPHOSPHATASIA

COMMON SYMPTOMS AND CONDITIONS THAT
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THE ALP CALCULATOR
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