2 CASE REPORT
A 20-month-old girl was seen in our department for right body side
muscle weakness. She was born of a normal pregnancy and a non-incidental
birth. The obstetrical ultrasounds of the three trimesters revealed no
abnormalities. There is no consanguinity between the parents and the
patient is the third of a sibship with two healthy sisters. Her
31-years-old mother did not report any past medical history of disease,
neither teratogenic drugs intake.
The mother noticed at birth a strange softness of the whole upper part
of the head and was reassured by the healthcare providers that time will
address the issue as the child grows up. Four months later, she
developed muscle weakness in the right side body, and started walking at
10 months age. Her pediatrician referred her to a rehabilitation center
where she underwent physical therapy.
With the persisting hemiparesis, parents decided to come to our clinic
for a better management. In clinical examination she weighted 9kg with a
43cm head circumference, and a facial deformity characterized by a
frontal depression. The upper parietal and frontal posterior region
measuring 21 x 15cm was soft but completely recovered with healthy skin
and hair. She was cooperative and did not have a language or behavioral
disorder. There was a right hemiparesis with a motor strength rated 3/5
in upper and lower limbs, but walked without assistance. The tendon
reflexes were brisk in the right side and the Babinski sign was present.
There were no other neurological anomalies as well as auditory or visual
disturbance. Ophthalmological and Ear Nose and Throat (ENT) examinations
were also normal. In addition, cardiac and abdominal ultrasounds were
normal. Blood chemistries including total cell count, serum creatinine,
alkaline phosphatase and ions were normal except phosphorus that was
slightly elevated at 1.84mmol/l (normal range 0.87-1.50mmol/l). Brain
CT-scan revealed a dilatation of the occipital horns of the lateral
ventricles that persisted after three years of evolution (Figure 1A &
B). The three dimensional CT (3D CT) reconstruction of the skull bones
showed the absence of the posterior part of the frontal and the upper
part of the parietal bones with normal facial bones and the skull base
(Figure 2A & B). Three years later a reduction of the soft tissue from
21 x 15cm to 14.5 x 10cm was noticed with a notable progression of bone
development (Figure 2C & D). Parents were reassured about the possible
bone development progression but were advised to protect the patient
from activities that may lead head injury and a follow up every six
months. The course of the disease was marked by two episodes of
generalized tonic and clonic seizures in three years interval. The first
episode occurred in a febrile context related to malaria infection and
the electroencephalogram was normal. Therefore, we decided a therapeutic
abstention. No other abnormalities were noted.