Arthrogryposis multiplex congenita with multiple pituitary hormone deficiency

Arthrogryposis multiplex congenita with multiple pituitary hormone deficiency (MPHD) can present unique diagnostic challenges. A 4-year and 5-month-old girl, born of non-consanguineous marriage, first of twin, presented with failure to thrive, bilateral club foot, joint contractures since birth and gross motor delay. The second twin died in utero in the second trimester. An antenatal scan revealed bicornuate uterus, oligohydramnios, fetal limb abnormalities, and breech presentation. The mother had perceived decreased fetal movements.

On examination, she was short (length - 63.5 cm) and weighed 6.5 kg with a weight for height of −1 standard deviation, suggestive of short stature. She has multiple contractures and short stature [Figure 1] suggestive of arthrogryposis multiplex congenita with short stature.

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Figure 1:

Physical features: (a) Recession of anterior hairline, (b) Low set ears, (c) Flexion deformity of wrist, (d) Large joint contractures of elbow and knee, (e) Flat foot.

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The evaluation was suggestive of hypothyroidism (low free thyroxine: 0.77 ng/dL [normal range: 1.0–1.7 ng/dL]; mildly elevated thyroid-stimulating hormone: 6.16 uIU/mL [normal range: 0.4–4.8 uIU/mL]) and growth hormone (GH) deficiency (peak GH of 1.94 ng/mL on clonidine stimulation test). Magnetic resonance imaging pituitary was suggestive of pituitary stalk interruption syndrome [Figure 2].^[1]

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Figure 2:

Magnetic resonance imaging pituitary showing: (a) Small anterior pituitary, (b) Ectopic posterior pituitary bright spot.

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Very few cases of arthrogryposis multiplex congenita with MPHD have been reported, some of which have a genetic basis.^[2] However, we did not find any pathogenic variant on mutation analysis. At present, the child is on thyroxine and GH replacement, orthopedic intervention, and physical rehabilitation measures.