Paro-Panjan and Neubauer reviewed the diagnostic process for evaluating a neonate with hypotonia. The authors are from University Children's Hospital in Slovenia.

Patient selection: neonate with hypotonia


Causes of central hypotonia identified in their series:

(1) hypoxic ischemic encephalopathy

(2) other encephalopathy

(3) intracranial hemorrahge

(4) cerebral palsy

(5) brain abnormality

(6) chromosomal disorder (Trisomy 21, Trisomy 18, other)

(7) Prader-Will syndrome

(8) other dysmorphic syndromes

(9) joint hyperlaxity

(10) metabolic disorder (congenital defect in glycosylation, Zellweger syndrome, PKU, propionic aciduria, galactosemia)


Causes of peripheral hypotonia identified in their series:

(1) spinal muscular atrophy

(2) neuropathy

(3) neuromuscular junction disorder

(4) congenital myotonic dystrophy

(5) myotubular myopathy

(6) Duchenne muscular dystrophy

(7) benign myopathy

(8) severe myopathy


Most common causes:

(1) hypoxic ischemic encephalopathy

(2) intracranial hemorrhage

(3) trisomy

(4) dysmorphic syndromes


Clinical pathway for working up a neonate with hypotonia (80% of cases identified within the first 4 steps):

(1) clinical assessment (family history, review of pregnancy and delivery, clinical exam)

(2) imaging of the CNS

(3) evaluation for a dysmorphic syndrome

(4) karyotype

(5) biochemical tests for a metabolic disorder

(6) muscle and nerve investigations (EMG, muscle biopsy, etc)

(7) further testing

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