A seven-month-old girl’s mouth droops when she cries, and she is unable to close her eye! What are the differential diagnoses?
A 7-month-old baby girl was brought to the hospital with complaints of inability to close one eye, deviated mouth while she cried, and asymmetrical facial gestures since birth. The girl was a product of non-consanguineous marriage and was the firstborn child of the couple. The baby was born spontaneously at full term via vaginal delivery. There was no significant past medical history; neither was the family history remarkable.
According to the mother, the baby had met all her developmental milestones on time, and on examination, her neuromotor development was appropriate for her age.
On examination, the right corner of her mouth drooped down and went to the right while she cried. Abnormal synkinetic movement manifesting with eye closure on jaw opening or during crying was observed. The eye closed only when the jaw was wide opened. At rest, facial asymmetry was quite evident. As shown in the picture. The rest of the examination, along with a review of the systems, was normal. Ophthalmologic examination was also normal. A detailed neurological examination was also unremarkable.
Examination findings were consistent with facial palsy. A diagnosis of Marin-Amat syndrome and asymmetrical crying face was made.
Marin-Amat syndrome is a rare acquired facial synkinesis which presents with facial asymmetry with eyelid drooping on jaw opening. In contrast, the asymmetric crying face is a minor congenital anomaly characterized by unilateral absence or hypoplasia of the depressor anguli oris muscle. ACF may be associated with other organ anomalies.
Certain investigations were done to rule out an underlying anomaly, including routine serological evaluation, thyroid function tests, echocardiography, abdominal ultrasonography, and brain magnetic resonance imaging. All the results came back normal. Electromyography could not be performed.
A detailed neurological examination is imperative in such cases to rule out other differential diagnoses, including Bell’s palsy and other facial synkinesis.
A final and more probable diagnosis of Marin-Amat syndrome was considered.
References:
Ekici A, Çarman KB, Özdemir Ö, Küçükçongar A, Ekici MA (2016) Congenital Marin-Amat Syndrome and Asymmetric Crying Face: A Case Report. Int J Brain Disord Treat 2:010. 10.23937/2469-5866/1510010
