A 4-mo-old girl with hypotonia and poor feeding
Prepared by...
Pranoot Tanpaiboon, M.D.
Department of Pediatrics, Faculty of Medicine, Chiang Mai University
A 4-mo-old girl referred from other hospital
Chief compliant: hypotonia and poor feeding since birth
Present illness:
> Patient was a product of a G3/3 healthy mother. The pregnancy was complication by polyhydramnios. She was born by c/s due to previous c/s at term. Her birth weight was 2,268 grams. Apgar scores were 8 and 8. It was noted that she had breathing problems, hypotonia, lethargy and poor suck since birth. She didn’t require respirator but required OG gavage feeding.
> Mother brought patient to Chiang Mai university hospital according to the recommendation of general pediatrician at other hospital.
> Patient is now 4-month-old and still has lethargy. She has weak cry and slow suckling. Feeding problems have been slightly improving.
Family history:
> denied consanguinity, no history of infantile hypotonia
Physical examination:
GA: An infant girl with light skin, brown hair and eyebrows, lethargy
 

BW 3,645 gm (below 3rd %centile, Lt 57 cm (below 10th % centile) (Figure 1), OFC 39 cm (at 50 th % centile)

V/S:

within normal limit

HEENT: AF 4X4 cm, yellow brown hair, iris and eyebrows. Tall forehead, bifrontal narrowing, and depressed angle of mouth, bilaterally.
Heart and Lungs

within normal limit

Abdomen:

no mass, no hepatosplenomegaly

Genitalia, extremities:

no abnormalities

Skin:

light skin color (as seen in Figure 2).

Neuro: generalized hypotonia, can't lift chin from bed at prone position, reflexes +1 all. She has fair eye contact and no social smile.
 
Figure 1: Growth curve:
Growth parameters at birth, 2 and 4 months
 
Figure 2: the patient at4-month-old, light skin color, yellow brown hair, iris and eyebrows. Tall forehead, bifrontal narrowing, and depressed angle of mouth, bilaterally.
Problem list:
 
  1. infantile hypotonia
  2. infantile lethargy
  3. poor suck
  4. failure to thrive with history of requiring special feeding technique
  5. questionable delayed development
  6. hypopigmentation
  7. abnormal facial appearance
Questions:
>
WHAT ARE THE DIFFERENTIAL DIAGNOSIS FOR FLOPPY INFANT?
>

WHAT IS THE MOST LIKELY DIAGNOSIS FOR THIS PATIENT?

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