Clinical course
The boy was born from second pregnancy, second birth, born by Caesarean
section (due to polyhydramnios, fetal heart rate anomalies in CTG) in
38th week of pregnancy with birth weight 3960g, head circumference 37cm
(> 97th percentile). In the Apgar scale,
he received 7/7/10/10 points. Irregular breathing, pale grey skin, and
increased muscle tone were noted; saturation of 65% and mild metabolic
acidosis in umbilical cord blood. Mechanical ventilation was used to
stabilize the child’s condition. During pregnancy, the mother was
diagnosed with hypothyroidism, treated with levothyroxine; fetal hiccups
were noted. The family history for miscarriages, deaths in early
childhood, and neurological and metabolic diseases were negative. The
child’s parents are unrelated; the proband has a healthy, 2-yr-old
sister.
Physical examination revealed facial dysmorphism (as coarse features
with puffy cheeks, bitemporal narrowing, deep-set eyes, long philtrum,
dysplastic auricles), long and overlapping fingers, large feet, pectus
excavatum, swelling of the eyelids and lumbosacral region. At 30 minutes
after the birth, deterioration in the general condition, grunting drops
in desaturation were observed with subsequent diagnosis of congenital
pneumonia. Difficulties in feeding (lack of sucking), muscular tension
disorders, epileptic seizures, and breathing difficulties with an
abnormal crying further complicated perinatal period. Convulsions with
drops in saturation occurred on the first day of life. Despite the
phenobarbital implementation, polymorphic epileptic seizures, limb
myoclonus, breathing disorders, sometimes with desaturation, were still
observed. Within the following days, the child became inactive and
flaccid. Abnormal spontaneous movements of the extremities were
observed, as nonrhythmic waving, pedaling, and increased muscle tone,
especially in upper extremities. Reduced muscular tension was
accompanied by areflexia. Since seizures were still uncontrolled,
levetiracetam was additionally introduced to the treatment with
initially good effect. During the hospitalization, muscle tone gradually
increased, and elbow and knee joints contractures appeared.
In the second month of life, the child gradually became more reactive,
but still presented clearly an impoverished spontaneous motor activity.
At times, the boy opened his eyes, but with no eye contact and did not
follow with his eyes. He was fed with a nasogastric tube. Physically,
the skin was pale, pasty, head circumference was still above
97th percentile, and prominent cranial sutures were
noted. The axial hypotonia and lower limb spasticity were observed;
tendon hyperreflexia appeared. In the neurological examination, the
traction test was negative, no sole reflex on both sides, no Babinski
sign bilaterally, weak grasping reflexes, no Moro reflex. Periodically
restless, crying, and hyperekplexia were observed, as well as epileptic
seizures, mainly myoclonic. Thus, in addition to phenobarbital and
levetiracetam, valproic acid was later introduced. Due to tachycardia,
propranolol was included in the treatment. Hypothyroidism requiring
substitution with levothyroxine was also diagnosed. Because of severe
and worsening clinical condition, the child was transferred to a home
hospice.