A 17-year-old Caucasian female came under our observation with a history of full-term precipitous delivery. At birth, the Apgar score was 7 at minute 1 and 9 at minute 5, and she showed postnatal hepatosplenomegaly, jaundice, and a petechial rash on her face, limbs, and trunk. Motor development was delayed: she gained head control at 4 months, the ability to sit at 12 months, the ability to stand unassisted at 13 months, and learned to walk, albeit precariously, at 20 months. By this time, no verbal language had developed nor had she gained adequate voluntary control over chewing and tongue movements. When she was one year old, clinical examination showed bilateral sensorineural hearing loss and mild mental retardation. An auditory prosthesis was implanted, and logopedistic rehabilitation was suggested. Transfontanellar ultrasonography, made possible by persistent opening of the fontanelle over 12 months, showed mild dilatation of the ventricular system, more prominent in the left lateral ventricle than in the right, in association with bilateral parenchymal calcifications. A diagnosis of congenital cytomegalovirus (CMV) infection with intracranial calcifications was made. Clinical examination at admission to our institution when she was 17 years old showed myopathic facies with amimia, bilateral hyposthenia of the facial muscles, an elongated and partially protruded tongue, an ogival palate, and bilateral claw hands.
Neurologic examination showed a lack of speech with emission of inarticulate sounds and severe deafness. She was able to understand spoken language and communicate using international sign language. There was salivary incontinence due to facial muscle hyposthenia, tongue protrusion and lateral movements were impossible, chewing was inadequate, a bilateral eyelash sign was present, and automatic-voluntary dissociation was also recognized. Reflexes were normal, except for an indifferent plantar response bilaterally. The patient did not require assistance for activities of daily living, such as eating, bathing, and dressing. She was described by one of her parents as stubborn, immature for her age, and prone to aggressive outbursts when frustrated; she showed a narrow range of interests and preferred to spend her time alone. During neuropsychologic evaluation, the patient appeared wakeful and sufficiently compliant, although easily distracted and intolerant of errors. General cognitive abilities were found to be borderline impaired (intelligence quotient 77) when measured with Raven's Progressive Matrices. There was also evidence of impaired visuomotor coordination and severe deficits in attention and executive function.