INTRODUCTION:
Agenesis
of the corpus callosum (ACC) is one of the most common congenital brain abnormalities
with an estimated prevalence ranging from 1.8 per 10,000 in the general population
to 230-600 per 10,000 in children with neurodevelopmental disabilities.[1]
It is characterized by the partial or complete absence of corpus callosum. It is
a band of white matter and it connects the two hemispheres in the brain.[2,3]
ACC may initially become evident
through the onset of epileptic seizures during the first weeks of life or within
the first two years. However, not all individuals with ACC have seizures. Common
symptoms that may become more apparent during infancy and childhood include cognitive
impairment, poor feeding and dysphagia, developmental delays in motor and language
skills, poor muscle tone and coordination, vision and hearing impairment, and/or
an accumulation of fluid in the skull (hydrocephalus).[3]
It
has been associated with several syndromes such as Andermann Syndrome (peripheral
neuropathy with corpus callosum agenesis), Aicardi Syndrome (infantile spasms, ocular
anomalies and agenesis of corpus callosum), Shapiro’s Syndrome (paroxysmal hypothermia
with agenesis of corpus callosum) and sporadically with Dandy-Walker Syndrome, foetal
alcohol syndrome, Leigh’s Syndrome, Arnold Chairi II syndrome.[4,5]
The
purpose of this case report was to describe agenesis of the corpus callosum in an
infant of four months old. The literature review was done using the Pubmed database.
The keyword used was “agenesis of corpus callosum”. The article type was restricted
to case reports. The Publication dates were restricted to last five years. The age
was set at birth to 18 years. The text availability was set to free full-text articles.
We are reporting a case report of a four-month-old
baby boy with a diagnosis of microcephaly, agenesis of corpus callosum, developmental
delay, seizures and recurrent cold.
CASE HISTORY:
A four months old infant was presented to the pediatric
clinic with chief complaints of seizures, noisy breathing and moderate cough since
two days. The infant cried immediately after birth and the birth weight was 2.75kg.
His history of present illness revealed that he suffered from Generalised Tonic-Clonic
Seizures. The baby was unable to hold head yet. The physician suspected developmental
delay and ordered MRI as a diagnostic aid for the child. The MRI findings revealed
complete corpus callosum agenesis with the mildly prominent supratentorial ventricular
system and mild hydrocephalus. His Chest X-ray AP view revealed segmentation abnormality
(Spina Bifida/hemivertebra) of the lower dorsal spine. The head circumference was
38.5cm. The pediatrician confirmed developmental delay and agenesis of Corpus callosum.
He prescribed Inj. Lora (Lorazepam) 0.4ml,
IV, if necessary, syrup Levipil 1ml twice daily, Syrup Docosahexaenoic acid 2.5ml per day and syrup growkid, a
dietary supplement that increases appetite, growth and boosts immunity and scheduled
review after 3 months.
After three months the patient was produced for review
with chief complaints of mild cold, passing stools after every feed. Upon examination,
the child was found to be short stature, underweight (4.8kg) for his age eight months,
the occipitofrontal head circumference was 41cm. The physician suspected Failure
to Thrive and ordered for evaluation. Syrup Maxtra 1ml, twice daily (Phenylephrine
(5mg/5ml) + Chlorpheniramine (2mg/5m), syrup growkid 2.5ml per day was prescribed.
The patient was produced for review again after three months with chief complaints
of cold. The head circumference was 42 cm. The physician prescribed Syrup Brozedex
(Ambroxol+Guaifensin and Levosalbutamol) 2 ml twice daily, Omnacortil drops 1 ml
twice daily for one day, Syrup neuron 2.5 ml twice daily and physiotherapy.
The
patient missed further follow up. He consulted the physician after five months again.
He complained about noisy breathing, increased frequency of urination, itching and
redness and weight loss. The physician prescribed Eumosone (Clobetasone + Miconazole
topical) for five days, Syrup Delcon (Chlorpheniramine (2mg) +Phenylephrine (2.5mg))
twice daily, syrup docosahexaenoic acid 2.5 ml per day and physiotherapy. They are
asked for a review after two months again.
After
two months, they brought the child to the clinic with chief complaints of fever,
first episode of seizure, with 4-5 episodes in the duration of ten minutes. His
history of present illness revealed tonic-clonic seizures, froatting, deviation
of angle of mouth and wheezing during breathing. He was administered IV fluids DNS,
30ml/hour in continuous infusion. He prescribed Inj. Biotax (Cefotaxime) 250mg,
IV, twice daily; Inj. Lora (Lorazepam) 0.4ml, IV, if necessary; syrup Levipil 1ml
twice daily and nebulizer Asthalin thrice daily for two days. The infant age was
1 year 4 months and 12 days old. Weight was 7kg. He was discharged after four days.
They were asked for a review after one month.
DISCUSSION:
The
present case had agenesis of the corpus callosum as a cause of generalized tonic-clonic
seizures. A similar case was reported in 18-year-old young patient wherein agenesis
and lipoma of corpus callosum caused generalized seizures.[6] The patient
was managed with antiepileptic drugs Lorazepam and Levetiracetam effectively. In
our case study, the patient had a segmental abnormality of the lower dorsal spine
and hydrocephalus. Similar findings have been reported in one study. Almost 90%
of the patients reported hydrocephalus in the study.[7] Children with
neural tube defects are at increased risk for cognitive impairments including nonverbal
skills, arithmetic achievement, and visual-motor integration that become more evident
with increasing age.[8] The relationship between the degree of cognitive
impairment and agenesis of corpus callosum have been variable suggesting the profound
effect of hydrocephalus on cognitive function.[9] Fletcher et al[10]
proposed that corpus callosum abnormalities lead to deficits in spatial cognition
that are commonly observed in children with shunted hydrocephalus.
The
management of corpus callosum requires symptomatic treatment. Seizures are controlled
by antiepileptic drugs, speech therapy helps in speech and language development,
physical therapy improves muscle strength and coordination. In our case study the
management of seizures was done by using Inj Lorazepam 0.4ml, IV, if necessary,
Syrup Levetiracetam 1ml twice daily. He tolerated the therapy and did not report
any side effects. Many studies reported safety and effectiveness of Levetiracetam
in childhood epilepsy.[11-13]
CONCLUSION:
There
is no specific treatment for ACC. The only available option was symptomatic treatment.
The seizures, due to ACC can be effectively controlled by using Levetiracetam in
pediatric patients.
ABBREVIATIONS:
ACC:
Agenesis of Corpus Callosum.
REFERENCES:
1.
D’Antonio F, Pagani G, Familiari A,
et al. Outcomes Associated with Isolated Agenesis of the Corpus Callosum: A Meta-analysis.
Pediatrics. 2016; 138(3):e20160445
2.
Agenesis of the corpus callosum [Internet].
En.wikipedia.org.2018 [cited 9 May 2018]. Available from: https://en.wikipedia.org/wiki/Agenesis_of_the_corpus_callosum.
3.
Agenesis
of Corpus Callosum - NORD (National Organization for Rare Disorders) [Internet].
NORD (National Organization for Rare Disorders). 2018 [cited 9 May 2018]. Available
from: https://rarediseases.org/rare-diseases/agenesis-of-corpus-callosum/
4.
Gelot A, Lewin F, Moraine C. Agenesis
of corpus callosum - Neuropathological study and physiopathologic hypothesis. J
Neurochirurgie. 1998; 44:74-84.
5.
Shifffer D, Borsotti L. Corpus Callosum: Neuropathology. J Neurosurg
Sci. 1997; 41:23-25.
6.
Belkouch A, Mouhsine A. A rare cause
of generalized seizures: agenesis and Lipoma of the Corpus Callosum. Pan African
Medical Journal. 2014; 19:384 doi:10.11604/pamj.2014.19.384.5896
7.
Essam A. Elgamal, Sherif M. Elwatidy,
Amro F. Alhabib, Zain B. Jamjoom, Waleed R. Murshid, Hamdy H. Hassan, Mustafa A.
Salih. Agenesis of the corpus callosum associated
with spinal open neural tube defect. Saudi
Med J. 2014; 35:57-63
8.
Wills KE, Holmbeck GN, Dillon K, McLone
DG. Intelligence and achievement in children with myelomeningocele. J Pediatr Psychol.
1990; 15: 161-176.
9.
Friedrich WN, Lovejoy MC, Shaffer J,
Shurtleff DB, Beilke RL. Cognitive abilities and achievement status of children
with myelomeningocele: a contemporary sample. J Pediatr Psychol. 1991; 16: 423-428.
10. Fletcher JM, Bohan TP, Brandt ME, Kramer LA, Brookshire
BL, Thorstad K, et al. Morphometric evaluation of the hydrocephalic brain: relationships
with cognitive development. Childs NervSyst. 1996; 12: 192-199.
11.
James WW. Levetiracetam in the treatment
of childhood epilepsy. Neuropsychiatr Dis Treat. 2007; 3(4): 409-421
12. Elberry A, Felemban R, Hareeri R, Kurdi S. Efficacy and
safety of levetiracetam in pediatric epilepsy. Saudi Pharmaceutical Journal. 2012;
20(1):81-84.
13.
Egunsola O, Choonara I, and Sammons
HM. Safety of Levetiracetam in Paediatrics: A Systematic Review. PLoS ONE. 2016;
11(3):e0149686. http://doi.org/10.1371/journal.pone.0149686.
