DEPARTMENT OF PAEDIATRICS, KULLIYYAH OF MEDICINE

INTERNATIONAL ISLAMIC UNIVERSITY MALAYSIA

CASE SUMMARY

YEAR 5 BLOCK 4 (2022/2023)

TITLE:

EPILEPSY WITH UNDERLYING GLOBAL

DEVELOPMENTAL DELAY

NAME: NIK KAMILLA IMAN BINTI NIK ABDULLAH

MATRIC NUMBER:
SUPERVISOR:
DATE OF SUBMISSION:
PATIENT’S IDENTIFICATION

Name:

Age: 10 months old

Gender: Male

Ethnicity: Malay

Date of Admission: 10/5/2023

SOurce of History: Biological mother

Introduction episode, witnessed by his caretaker.
Pre-ictally, he just finished bathing and was
Epilepsy is a chronic neurological condition resting before he suddenly had uprolling of
which affects physical, psychological and eyeballs and tongue thrusting for about 5
social function of children and their minutes. He was not responding to call.
families. About 0.5% of children have There were no jerky movements of the
epilepsy. Children with epilepsy differ from limbs, drooling of saliva, urinary or bowel
adults in their clinical manifestation where incontinence or perioral cyanosis. It aborted
sometimes their symptoms are not spontaneously and had post ictal drowsiness
noticeable in which they can only have afterwards.
blank staring or they can have severe This episode of fitting was preceded
convulsions like jerking and shaking. They by fever for 1 day. The highest documented
are also different in terms of etiologies, the temperature was 37.6C. It was associated
presence of unique electroencephalogram with a runny nose and cough. There was no
patterns, and response to anti- seizure projectile vomiting, inconsolable crying,
medications. Epilepsy can be caused by rash or poor feeding.
various etiologies including structural brain His maternal and paternal aunt has a
lesions or a genetic variation. However, history of febrile convulsion during
about 50% of epileptic cases have no known childhood. Otherwise, no history of fall prior
cause. to the event, family history of epilepsy or
Epilepsy has been associated with other genetic disorders.
neurocognitive impairment in children, and He was immediately brought to the
it can adversely impact school performance emergency department and was admitted
and long-term psychosocial aspects. into the ward. In the ward, he was afebrile
and there was no fitting episode.
Summary of History of Presenting Illness However, on day 4 of admission, he
developed 2 episodes of fitting. The second
Yousuf, a 10 month old boy, presented with episode occurred at 7.00 pm with a similar
one episode of fitting. It started around 3.30 presentation. The fitting was aborted after
pm when he suddenly developed a fitting giving Rectal Diazepam. The documented
temperature was 38.6C. He had another limbs bilaterally with power of at least 4 out
episode of fitting at 7.00 am the next day in of 5. Reflexes were normal in all limbs.
which he presented with a generalized tonic Babinski and clonus are negative. Cranial
clonic seizure which lasted for 5 minutes nerves were grossly normal. Other systemic
before aborted by IV Diazepam. examinations were unremarkable.

Upon further history, he was noted to have a

developmental delay mainly in 2 domains;
gross and fine motor. Currently, he is able
to pull to sit with no head lag and raises
head on ventral suspension. He is unable to
turn from supine to prone, sit unsupported
nor crawl. For his fine motor area, he can
grasp objects placed in hand and follow
objects side to side but no head turning and
has mainly palmar grasp. He is unable to
transfer objects and has no pincer grip. The
speech and social domains were up to age.

Summary of Physical Examination

Figure 1- Growth chart of Yousuf showing
He was conscious but appeared agitated. He his weight-to-age and length-to-age are
was not in respiratory distress and there below the 5th centile.
were no dysmorphic features. His weight is
6.6 kg with length of 67 cm which is both Diagnosis, Investigation, Management
below the 3rd centile. There was no
abnormal movement or neurocutaneous Initially, he was treated as a simple febrile
signs. seizure but after the subsequent fitting
On neurological examination, there were no episodes he was suspected to have epilepsy
fasciculations, wasting, scars or tremor. The with global developmental delay. In the
tone was normal of both upper and lower ward, he was given fluid maintenance with
NSD5%, oral paracetamol QID, and was put months old. He was seen by a dietician at a
on a fit chart. He was planned for an health clinic and was said to have improved
electroencephalogram (EEG) and MRI of his growth.
the brain. He was also referred to
occupational therapist for the early Discussion
intervention program for children with
developmental delay. Final diagnosis is Epilepsy is a neurological disorder
newly diagnosed epilepsy with underlying characterized by recurrent seizures which
global developmental delay. are caused by abnormal electrical activity in
the brain. Seizures can disrupt the normal
Quality of Life brain function and interfere with various
cognitive functions which includes learning,
He was noted to have developmental delay attention, memory and language
incidentally during this current admission. development and this can contribute to
Although he was on regular health clinic global developmental delay. Global
follow-up, he was never referred to the developmental delay (GDD) is defined as a
hospital regarding the delay. He was born significant delay in at least 2 of the major
via elective lower segment cesarean section developmental domains (gross motor, fine
and was conceived through in-vitro motor, language and social) in children less
fertilization (IVF) with no antenatal or than 5 years of age. In developed countries,
postnatal complication. There was no NICU there are up to 5% incidence of GDD. GDD
admission however he was noted to have can be caused by many etiologies such as
tongue tie. Regarding the developmental chromosomal abnormalities, for example,
delay, he was planned for workup for global trisomy 21, trisomy 13 or trisomy 18. It can
developmental delay which includes also be caused by inborn error of
investigations for inborn error of metabolism, infections, intrauterine
metabolism and chromosome study. exposure to toxic substances, severe head
However due to financial constraint, he was injury or cerebral palsy. Epilepsy itself can
referred to HTAA for further investigations. directly affect the brain development and
Besides delay in the development, he was function leading to GDD.
also noted to have poor weight gain since 2
Initially the patient was to have a simple disease with an unpredictable and
febrile seizure. However, given his age that debilitating nature. Parents of these children
is less than 18 months, he has a family not only have to face the economic burden
history of febrile convulsions and also it was of this disease, they also have to face the
a low grade fever during the first episode, he social stigma surrounding it, and having a
has a high risk of recurrence. He also child with developmental delay at that. It
developed recurrent fitting episodes will also give an effect to the family unit as
afterwards and thus was diagnosed with a whole.
epilepsy. The main management of the administration
of anti-epileptic drugs. Treatment is
Children with epilepsy are at higher risk for recommended if there is presence of at least
psychological, neurological, academic and two episodes of fitting as there is a risk of
social problems caused by their chronic recurrence of up to 80%. The choice of
neurological condition which can negatively antiepileptic drugs is given according to the
impact their quality of life. Studies have seizure types. Besides giving medications,
shown that there is a high burden of mood parental education is also important so they
disorders such as depression in children with could be prepared in case a fitting episode
epilepsy as compared to the general occurred at home. Besides that, early
population. The impact of epilepsy on a diagnosis and intervention including referral
child’s daily life which includes the to speech therapist, occupational therapist
limitation on the activities that they are able can help reduce the impact of epilepsy and
to do and the possible side effects of their GDD on the child’s quality of life.
medications can contribute to them having
low self-esteem. They would lose
confidence to participate in social gatherings
or sports.

Besides the fact that epilepsy has already

cause so much impact towards the patients’
life, it also will affect the families too.
Epilepsy is a progressive and complex
Conclusion caused by epilepsy. Not only the child
needs support but also the parents as well
Epilepsy can have a very big impact on a Thus, it is also important for other family
child’s life. It can affect them not only members as well the community to be well
biologically but also psychologically and educated on this matter
socially. Parent education is a crucial step in
order to reduce the morbidity and mortality