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 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 9  |  Issue : 2  |  Page : 84-87

Cutis to convulsions: A case series on neurocutaneous syndromes


Department of Pediatric Medicine, Burdwan Medical College and Hospital, Bardhaman, West Bengal, India

Date of Submission09-Oct-2020
Date of Decision10-Nov-2020
Date of Acceptance29-Nov-2020
Date of Web Publication27-Apr-2021

Correspondence Address:
Dr. Jonaki Pal
Department of Pediatric Medicine, Burdwan Medical College and Hospital, Bardhaman - 713 104, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpai.jpai_23_20

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  Abstract 


Neurocutaneous syndromes (NCSs) are a group of genetic disorders characterized by developmental lesions of the neuroectoderm. We present five cases of NCSs, all of which were associated with seizures presenting in the pediatric age group with classical skin lesions.

Keywords: Neurocutaneous, seizures, skin


How to cite this article:
Pal J, Datta AK. Cutis to convulsions: A case series on neurocutaneous syndromes. J Pediatr Assoc India 2020;9:84-7

How to cite this URL:
Pal J, Datta AK. Cutis to convulsions: A case series on neurocutaneous syndromes. J Pediatr Assoc India [serial online] 2020 [cited 2022 Aug 13];9:84-7. Available from: http://www.jpai.in//text.asp?2020/9/2/84/314811




  Introduction Top


Neurocutaneous syndromes (NCSs), also called phacomatosis, are a diverse group of disorders affecting the skin and central nervous system (CNS).[1] They present with abnormalities of the skin along with an increased risk of neurological complications as the skin and the brain have a common ectodermal origin.[2]


  Case Reports Top


Case 1

An 8-year-old female child from Katwa, Burdwan, presented with a history of three episodes of unprovoked afebrile seizures which were generalized tonic-clonic seizures (GTCS) in type, with each episode lasting for 15–30 min. There was no history of seizures in the past. Birth history was uneventful, and her development was similar to her peers. The child had undergone Ilizarov stabilization for pseudoarthrosis of the tibia and the lower 1/3rd of the fibula 3 weeks back [Figure 1]. On examination, there were multiple café-au-lait macules on her limbs and trunk, with the largest macule being 9 mm in diameter [Figure 2]. The child was clinically diagnosed as a case of neurofibromatosis Type 1. Her magnetic resonance imaging (MRI) brain showed a large space-occupying lesion in the right cerebral hemisphere and was immediately referred to neurosurgery [Figure 3].
Figure 1: Ilizarov stabilization for pseudoarthrosis of the tibia and the lower 1/3rd of the fibula

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Figure 2: Café-au-lait macules

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Figure 3: Magnetic resonance imaging brain showing a space-occupying lesion in the right cerebral hemisphere

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Case 2

A 1-year-old male child from Asansol, Burdwan, was admitted with the complaints of abnormal movements for the last 5–6 months. The movements started spontaneously during or after episodes of crying, occurring several times per day, each lasting for about 1 min. The movements were characterized by rapid bending of the head and torso forward with simultaneous raising and bending of the arms while partially drawing the hands together in front of the chest. The child had uneventful antenatal and postnatal periods. However, his brother had suffered similarly and had died at the age of 6 years. On examination, there were multiple hypomelanotic macules on the limbs and torso and Shagreen's patch on the back [Figure 4]. His MRI brain showed multiple bilateral cortical and subcortical focal altered intensities with multiple bilateral periventricular subependymal nodules, suggestive of tuberous sclerosis [Figure 6]a. The mother had facial angiofibromas/adenoma sebaceum and confetti skin lesions [Figure 5]a and [Figure 5]b, and her MRI brain showed presence of cortical tubers [Figure 6]b. The child was diagnosed as a case of tuberous sclerosis with infantile spasm and was treated with vigabatrin at 50 mg/kg/day.
Figure 4: Multiple hypomelanotic macules and Shagreen's patch

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Figure 5: (a) Adenoma sebaceum. (b) Confetti skin lesions of the mother

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Figure 6: (a) Magnetic resonance imaging brain of the child showing multiple bilateral cortical and subcortical focal altered intensities with multiple bilateral periventricular subependymal nodules, suggestive of tuberous sclerosis. (b) Magnetic resonance imaging brain of the mother showing subependymal tiny nodules and cortical tubers

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Case 3

A 2-year- and 4-month-old female child from Arambagh, Hoogly, was admitted with a history of two episodes of generalized tonic-clonic convulsion within 2 days, with each episode lasting for about 2 min. She had hairy pigmented nevi involving the scalp, face, and trunk in a circumferential distribution from the abdomen to the thighs including the external genitalia since birth [Figure 7]. Systemic examination revealed no abnormalities. Cerebrospinal fluid examination showed no melanin-containing cells, and electroencephalogram showed no abnormality. Her MRI brain showed hyperintense signals and MRI spine showed enhancement of leptomeninges covering the entire cord [Figure 8]a, [Figure 8]b, [Figure 8]c Thus, with the findings of benign giant cutaneous lesions and melanocytic deposits within the CNS, the child was diagnosed as a case of neurocutaneous melanosis.
Figure 7: Giant hairy pigmented nevi

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Figure 8: (a) T1-weighted magnetic resonance imaging brain showing hyperintense signals in the left amygdala. (b) Axial contrast-enhanced T1-weighted magnetic resonance imaging brain showing leptomeningeal enhancement between interpeduncular and suprasellar cisterns (between arrows). (c) Sagittal contrast-enhanced spin-echo T1-weighted magnetic resonance imaging obtained at presentation showing enhancement of leptomeninges covering the entire cord

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Case 4

A 6-month-old male child from Bolpur, Birbhum, was admitted from the outpatient department with complaints of sudden jerky movements of the left side of the body involving the upper and lower limbs and twitching of the left side of the face for the last 3–4 months, with each episode lasting for 5–10 min. The child was born at term by normal institutional delivery. No skin lesions were noted at birth, and there was no history of trauma to the head. His MRI brain was suggestive of Sturge– Weber syndrome More Details [Figure 9]a and [Figure 9]b. A venogram done showed collateral venous channels supporting our diagnosis [Figure 9]c. The child was diagnosed as a case of Type III Sturge–Weber syndrome and was treated with levetiracetam.
Figure 9: (a) Magnetic resonance imaging brain suggesting focal gliosis at the right parieto-occipital region with Zyral type of calcification (likely associated with Sturge–Weber syndrome) with supratentorial ventriculomegaly likely due to aqueductal stenosis. (b) T2-weighted gadolinium images showing abnormal gyri manifesting as hypointense areas of extensive leptomeningeal enhancement. (c) Venogram showing large dilated veins draining from the right parieto-occipital region to the straight sinus, consistent with large focal venous tributary

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Case 5

A 1-year-old male child from Monteswar, Burdwan, presented with two episodes of GTCS and delayed developmental milestones. The child was born of a nonconsanguineous marriage. There were marbled hypopigmented streaks on the right side of the body extending from the neck to the buttocks with involvement of the right upper and lower limbs [Figure 10]. The hypopigmented streaks appeared in a pattern of concentric whorls over the trunk which ended abruptly in the midline anteriorly and fell slightly short of the midline posteriorly. Similar patterns were noted in the right-sided limbs as well. The child was clinically diagnosed as a case of hypomelanosis of Ito and the seizures were controlled with phenytoin.
Figure 10: Hypopigmented streaks in the pattern of concentric whorls which ended abruptly in the midline anteriorly and fell slightly short of the midline posteriorly

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  Discussion Top


NCSs are not uncommon in pediatric population, but they often remain undiagnosed.[3] Because most of these syndromes have pathognomonic cutaneous and radiological appearances, their proper diagnosis hinges on a good correlation between dermatological and radiological findings. Further collaborative research is required to understand the patterns of their embryological development and the true genetic basis.[4]


  Conclusion Top


It is always necessary to find out the subtle neurological signs in any case with cutaneous markers suggestive of NCS.[5] In addition, a detailed dermatological examination is must in a child with CNS involvement. However, the neurological course cannot be predicted from skin lesions.

Acknowledgments

We acknowledge the Department of Pediatric Medicine and MSVP of Burdwan Medical College and Hospital for allowing us to publish this paper.

Informed consent

Written informed consent was obtained from the patients/their guardians for publication of this case series and accompanying images.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients/their guardians have given their consent for the images and other clinical information to be reported in the journal. The patients/their guardians understand that the names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
de Ribaupierre S, Vernet O, Vinchon M, Rilliet B. Phacomatosis and genetically determined tumors: The transition from childhood to adulthood. Neurochirurgie 2008;54:642-53.  Back to cited text no. 1
    
2.
Cross JH. Neurocutaneous syndromes and epilepsy – Issues in diagnosis and management. Epilepsia 2005;46 Suppl 10:17-23.  Back to cited text no. 2
    
3.
Dina D, Gerald MF, Refaat ES. Neurocutaneous syndromes. Adolesc Med 2002;13:495-509.  Back to cited text no. 3
    
4.
Sarnat HB, Sarnat LF. Embryology of the neural crest: Its inductive role in the neurocutaneous syndromes. J Child Neurol 2005;20:637-43.  Back to cited text no. 4
    
5.
Purkait R, Samanta T, Thakur S, Dhar S. Neurocutaneous syndrome: A prospective study. Indian J Dermatol 2011;56:375-9.  Back to cited text no. 5
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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]



 

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