LETTER TO THE EDITOR
|Year : 2020 | Volume
| Issue : 2 | Page : 162-163
West syndrome and neurocutaneous syndromes: A never-ending association
Singanamalla Bhanudeep1, Priyanka Madaan2, Niteesh Bharadwaj1, Lokesh Saini1, Dipankar De3
1 Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
2 Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India; Council of Scientific and Industrial Research, New Delhi, India
3 Department of Dermatology, Venereology and Leprosy, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
|Date of Submission||10-Nov-2019|
|Date of Decision||16-Jan-2020|
|Date of Acceptance||16-Jan-2020|
|Date of Web Publication||30-Jun-2020|
Dr. Lokesh Saini
Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh.
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Bhanudeep S, Madaan P, Bharadwaj N, Saini L, De D. West syndrome and neurocutaneous syndromes: A never-ending association. J Pediatr Neurosci 2020;15:162-3
West syndrome is an electroclinical syndrome with a combination of spasms in clusters and hypsarrhythmia in electroencephalography (EEG). Development delay at onset is not a necessary criteria for West syndrome. It is associated with various neurocutaneous syndromes such as tuberous sclerosis complex (TSC), Sturge– Weber syndrome More Details, linear nevus sebaceous syndrome, neurofibromatosis-1, hypomelanosis of Ito, and incontinentia pigmenti. It is also well known that children with West syndrome and tuberous sclerosis are prone to develop autism spectrum disorder. Here we report a 6-month-old girl who presented to us as West Syndrome, but on clinical examination she was found to have features suggestive of a overlap of TSC and Klippel–Trenaunay syndrome (KTS).
| Case Report|| |
A 6-month-old girl presented with mild development delay and infantile spasms since 3 months of age. The frequency was 2–3 spasms/cluster and 2–3 clusters/day. The prenatal and perinatal period was uneventful. No significant family history was observed. Examination revealed multiple ash leaf spots over left arm, right leg, and buttocks [Figure 1]C. She also had a pink-red blotchy stain over right upper limb extending to chest and back [Figure 1]A. Also, there was visible hypertrophy of the right upper and lower limbs [Figure 1]B. Rest of the systemic and neurological examination was normal. Magnetic resonance imaging (MRI) of brain revealed multiple cortical tubers and subependymal nodules (SEN) with calcification [Figure 2]A and B. Echocardiography and abdominal ultrasound were normal. EEG was suggestive of hypsarrhythmia. In view of multiple tubers, SEN, and ash leaf spots (three major criteria for TSC), and right hemihypertrophy and port-wine stain (two of the classic triad of KTS), a diagnosis of TSC with KTS overlap was made. She was initiated on vigabatrin with which the spasms became passive.
|Figure 1: Clinical photography of index child. (A) Right hand port-wine stain extending to back. (B) Right-sided limb hypertrophy. (C) Ash leaf macule on posterior aspect of lower leg near lateral malleolus|
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|Figure 2: MRI brain of index child. T1/T2-weighted axial MRI brain shows multiple tubers (black arrows) and calcified subependymal nodules (double arrows) (A, B)|
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| Discussion|| |
Infantile spasms can occur either in isolation or in clusters. If they occur in clusters and EEG shows hypsarrhythmia, it is called as West syndrome. Infantile spasms occur in up to 68% of children with TSC. Overlap of these two neurocutaneous syndromes has not been described till now. TSC and KTS are believed to be inherited separately. However, TSC has been infrequently associated with limb hypertrophy and vascular anomalies. This is probably due to the dysregulation of phosphoinositide 3-kinase (PI3K)–Akt–mTOR (mammalian target of rapamycin) cascade, leading to increased cellular growth and differentiation. Despite frequent dysregulation of this cascade in TSC, the association of TSC and KTS is rare due to variable expressivity.,, Hence, mTOR inhibition may play a key role in the management of this association. Hence, whenever an infant presents with infantile spasms, one must look for neurocutaneous markers, as the management and prognosis differs.
To conclude, this is the first case in literature, to the best of our knowledge, showing the overlap of TSC and KTS along with West syndrome in an infant.
We thank the parents of the patient for the images to add in the literature.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]