Nicolaides Baraitser syndrome

Dr Theresa Raju, Dr Vinayan KP (paediatric neurology), Dr C Jayakumar, Amrita Institute of medical sciences, Kochi
 Three year-old male first born of NCM presented with the complaints of developmental delay with behavioural issues, noticed predominantly in speech and social aspects .
Antenatal history: Mother had PIH in the last trimester. 
Maternal scans were normal. 
Natal history: There was history of decreased fetalmovements. 
Delivered at 36 weeks of gestation normal vaginal delivery with a birth weight of 2kg. Ba did not cry after birth, had respiratory distress and was intubated at 16 hours of life. IV antibiotics were given for 4 days. 
Ba developed neonatal seizure at 18 hours of life with semiology being tonic movements of limbs, vacant stare and chewing movements. 
Treated with IV phenobarbitone 
In view of aphonia, laryngoscopy was done which showed normal and mobile bilateral vocal cord
On day 2 of life CT brain was done which showed grey white differentiation in bilateral capsuloganglionic region. 
Two small foci in left cerebellar hemisphere with largest measuring 4.5 x 4 mm. 
No CT evidence of venous thrombosis. Soft tissue swelling over bilateral parieto- occipital region. 
On day 3 TSB was 13.68 and ba was started on phototherapy. 
EEG done was abnormal with multi focal epileptiform abnormalities. 
He was discharged on day 12 of life. 
Repeat EEG done on day 54 of life showed generalized as well as multifocal spike with slow wave discharges. 
Repeat EEG at 4 months showed normal sleep record. 
NSG at 17 days was normal. 
Thereafter child had delay in attaining milestones at all domains. 
There were no further seizures after that.
At 9 months of age child had fever cough followed bluish discolouration of lips followed drowsiness lasting for 1 hour. 
He was taken to near hospital and was loaded with InjLorazepam and was discharged on Clonazepam. The child had severe speech delay and was started on occupational therapy, speech therapy and behavioural therapy.
At two years and 5 months, he was taken to another hospital for central hypotonia. MRI brain done showed gliosis in right peritrigonal white matter, superior vermis and right superior cerebellar cortex. No evidence of hypomyelination/demyelination.
At 3 years he was taken to another hospital were 2D echo done was normal. Developmental psychopathology checklist done showed clinically significant scores on speech delay, attention issues, restlessness and sensory issues.
He was started on Oxcarbamazepine(Oxetol) and risperidone for behavioural issues. 
Oxetol was later stopped in view of increased drowsiness parents themselves.
He is immunized for age and there is no family history of seizures or developmental issues.
At admission, he was playful and alert
Vitals stable. 
Auxology: wt:11.2kg (below 3rd centile), Ht:85cm (about CE below 3rdcentile), HC:48cm (3rd to 50th centile).
Head to foot examination: Fair skin, light hair, hypertelorism, anteverted nostrils, wide philtrum, large ears, narrow upper and lower lips, sacral dimples, frontal bossing, occipital plagiocephaly.
Systemic examination:
CNS: PEARL, Hyperactive, stereotypes seen, Motor: bulk- normal, power: hypotonia, Power:5/5 in all limbs, DTR:1+
Other systems within normal limit.
Prolonged overnight VEEG monitoring done: No habitual events recorded. 
VEP/NCV/BERA were normal 
On Vineland and behavioral scale (VABS), adaptive behavior composite standard score (ABC )score was 55, and the child was found to have mild deficit in adaptive behaviour and functioning. 
He also had a maladaptive behaviour index 21, indicating clinically significant level of internalizing and externalizing maladaptive behaviour’s and was advised to continue speech therapy, occupational therapy and behavioural therapy. Genetic evaluation suspecting Nicolaides Baraitser syndrome was done Whole exome sequencing .
The child was discharged on oral risperidone and carniston.

Discussion: Nicolaides Baraitser syndrome is a rare genetic condition caused de nova missense mutation in SMARCA 2 gene and had only been reported in fewer than 200 cases. Major features include mild prenatal growth retardation, moderate postnatal growth retardation, mild to sever developmental delay, severe impaired speech, seizures, microcephaly, sparse hair, progressive skin wrinkling, thick anteverted alae nasi, long and broad philtrum, large mouth, thin upper and thick lower vermilion, scoliosis, short metacarpals and metatarsals.