Preferred Label : Familial infantile myasthenia;
ICD-11 definition : Isolated Prolyl endopeptidase-like (PREPL) deficiency causing congenital myasthenic
syndromes with pre- and postsynaptic features and growth hormone deficiency was reported
in a singleton case. Clinical features include onset at birth, hypotonia, feeding
difficulties. On examination eyelid ptosis, tented upper lip, proximal muscle weakness,
variable during day, cholinesterase-inhibitor responsive. No decrement on repetitive
nerve stimulation.;
Origin ID : 1087841084;
Automatic exact mappings (from CISMeF team)
Isolated Prolyl endopeptidase-like (PREPL) deficiency causing congenital myasthenic
syndromes with pre- and postsynaptic features and growth hormone deficiency was reported
in a singleton case. Clinical features include onset at birth, hypotonia, feeding
difficulties. On examination eyelid ptosis, tented upper lip, proximal muscle weakness,
variable during day, cholinesterase-inhibitor responsive. No decrement on repetitive
nerve stimulation.
