Hearing my friend's experiences as HO in O&G department really makes me excited.
At 8am, I joined briefing given by Prof Hamizah for year 5 students.
Prof Hamizah adviced me to see Prof Mukhtar but he was not in his room
I end up seeing him at 2pm today
Basically as usual I will join year 5 classes
However, next week they will have Hari Raya break
& I will end up following Prof mukhtar's session with his 3rd year mentees
Actually Im having an idea to arrange classes with Dr Bahiyah
May Allah ease my way through
This morning, I followed Prof Hamizah's Clinic
Look up few cases
30+ year old malay lady G2P1 @ 31 weeks of POA
LCB 5 years ago
Actually her first child was dx as Aicardi syndrome
Prof Hamizah said in Taiwan, these syndrome will be diagnosed earlier & will be terminated
But in Malaysia, the doctors are not used to detect this syndrome
What is Aicardi Syndrome??
- X-linked dominant disorder
- only been observed in girls
- if boys, proved to have Klinefelter syndrome
- lethal to normal males
this syndrome characterised of following triad of features
- Partial or complete absence of the corpus callosum in the brain (agenesis of the corpus callosum);
- Eye abnormalities known as "lacunae" of the retina that are quite specific to this disorder;
- The development in infancy of seizures that are called infantile spasms.
- Symptoms typically appear before a baby reaches about 5 months of age
Pathognomonic lesions - chorioretinal lacunae
commonly cluster around the optic disc of the eye and are described as punched-out, white- or yellow-colored defects
Other common ocular lesions include the following:
- Retrobulbar cyst
- Retinal detachment
- Iris synechiae
- Remnants of fetal pupillary membrane
Microcephaly, hemifacial asymmetry, microphthalmia, or plagiocephaly may be present.
Cleft lip & palate also occur with increased frequency.
- Costovertebral abnormalities, such as hemivertebrae, fused or butterfly vertebrae, and rib abnormalities, may be present.
- Scoliosis resulting from these deformities can be disfiguring and disabling.
- profound mental retardation
- Some children may walk and speak, although rarely.
- If present, hypotonia, spasticity, or hemiplegia may complicate gross motor development
- intractable epilepsy, and pulmonary cx
include porencephalic cysts and hydrocephalus, and gastro-intestinal problems-omphalocele
- often leads to death in the first decade. Sudden, unexplained death is common.
- Less severely affected individuals may live into childhood and adolescence
- in female infants only after the onset of seizures or when the presence of dysmorphic facies prompts further evaluation.
Some children are diagnosed in utero with brain-structure abnormalities.
If only visual abnormalities or developmental delays are present, the condition may not be recognized until the onset of seizures
or if ophthalmologic evaluations demonstrate characteristic chorioretinal lacunae, which are considered pathognomonic for Aicardi syndrome
The mother said the syndrome was detected at her 39wks of pregnancy
Its too late to be terminated.
In Taiwan, if it was detected late, the baby's heart will be injected with KCL in utero
But i think this is killing. Huhu
Currently, the child age was 5 years old & her weight only 9kg
She was completely bed ridden, quadriplegic & had scoliosis + eye problems
Feeding : given in bottle ; milk, water & blended porridge
On follow up with neuro clinic in HKL
For this current pregnancy, US done by prof hamizah & found out to be normal & correspond to the date
No abnormality found
From her red book stated his patient was subjected to MOGTT in her early pregnancy
Result : Normal
Prof hamizah asked, does she actually indicated for MOGTT??
Answer: No. There's no association btwn GDM/DM cx preg to Aicardi Syndrome
Hope it benefits =)