Neonatal Hypotonia and Weakness

Question 1

Differential for Neonatal Hypotonia and weakness

Answer 1

Acute illness - Infection
Genetic Syndromes
- Down
- Prader Willi
- Edward and Patau Syndrome
- Achondroplasia
Inborn errors of metabolism
Endocrine
- Hypothyroidism
- Hypoglycaemia (maternal diabetes)
Primary Neuromuscular disorder
Cerebral Palsy

Question 2

Examination for Hypotonia in Infant

Answer 2

• Hold infant under the arms - Will sleep through hands
• Horizontal suspension - Limbs and head hang loosely
• Pull arms from supine into sitting position - Head lag even when sitting position is reached

Question 3

Prader-Willi Syndrome

Answer 3

Loss of function of specific genes on Chromosome 15

Clinical Features

Prenatal
- Reduced foetal activity
- Small size for gestational age
- Breech positioning
- Polyhydramnios
- Asymmetrical intrauterine growth

Neonatal Period
- Neonatal hypotonia
- Feeding difficulties
- Weak cry
- Genital Hypoplasia
- Hypopigmentation

Childhood
- Delayed development
- Growth hormone deficiency
- Hyperphagia from 2yo.
- Childhood obesity

Complications
- OCD
- Short-sightedness
- Short stature
- Scoliosis
- Delayed onset of puberty
- T2DM
- Delayed or absent menstrual periods
- Osteoporosis
- Teeth problems
- OSA
- Temper tantrums
- Small male genitals