Unusual Cause of West Syndrome.

Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan dysfunction (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) secondary to postzygotic mutation in the early embryonic period. Predominant neurological manifestations include epilepsy, intellectual impairment, and focal deficits. Here, we report a 3-year-old girl who presented with epileptic spasms and had a characteristic linear sebaceous nevus. This report not only highlights the importance of early diagnosis of this condition but also emphasizes the need for multiorgan screening in children with seizures and nevi.

INTRODUCTION

Schimmelpenning-Feuerstein-Mims syndrome (SPFMS) is a sporadic neurocutaneous disorder characterized by nevus sebaceous of Jadassohn in association with extradermatological (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) anomalies. Here, we report a 3-year-old girl who presented with epileptic spasms and had a characteristic linear sebaceous nevus. This report not only highlights the importance of early diagnosis of this condition but also emphasizes the need for multiorgan screening in children with seizures and nevi.

CASE REPORT

A 3-year-old girl presented with concerns of delayed attainment of milestones and asymmetric epileptic spasms since the age of 8 months. At the age of three, she was able to walk, had a mature pincer grasp, but spoke only 1–3 words with meaning but did not understand any commands or point to body parts. She had daily epileptic spasms, occurring in clusters of 10–12, about 5 times a day. Perinatal history and family history were not contributory. On examination, there was a golden brown, hairless, linear sebaceous nevus on the forehead measuring 6 cm × 0.5 cm extending to the nose in the midline [Figure 1a]. She also had a plaque-like lesion in the occipital area of scalp [Figure 1b] and two elevated patches on the tongue. Her weight, height, and head circumference were within normal range. She had visual inattention with no other focal motor deficits.

Figure 1

The golden brown, hairless, linear sebaceous nevi on the forehead extending to the nose in the midline (a). A plaque-like lesion in occipital area of scalp (b) and two elevated patches on the tongue (c) are also seen

Neuroimaging revealed posterior quadrantic hemimegalencephaly of the left temporoparietal cortex [Figure 2]. Electroencephalogram was suggestive of hypsarrhythmia. Screening (ultrasound abdomen, echocardiography, skeletal radiology, ophthalmic assessment) of other organ dysfunction did not reveal any abnormality. Skin biopsy from the occipital scalp lesion revealed hyperkeratotic epidermis with focal papillomatosis and increased number of nearly mature sebaceous glands in the dermis consistent with sebaceous nevus [Figure 3a-c]. In view of linear nevus and central nervous system involvement in the form of epileptic flexor spasms, a diagnosis of SPFMS was considered.

Figure 2

Axial T1 (a) and T2 (b) section of the brain show posterior quadrantic hemimegalencephaly of the left temporooccipital region with gyral thickening at the expense of deep white matter

Figure 3

(a) Nevus sebaceous characterized by hyperkeratotic epidermis with focal papillomatosis (H and E, ×100); (b) clusters of mature and nearly mature sebaceous glands within the dermis (H and E, ×200); (c) high magnification of cluster of sebaceous glands around hair follicle (H and E, ×400)

Infantile spasms were controlled with adrenocorticotropic hormone therapy at 3 U/kg/day. She also received Vitamin D supplements, for associated Vitamin D deficiency. She has also been initiated on neurodevelopmental rehabilitation.

DISCUSSION

SPFMS is a sporadic neurocutaneous disorder with clinical hallmark of multisystem involvement (neurological, ocular, renal, cardiac, or skeletal anomalies) in addition to the classical sebaceous nevi. SPFMS falls under the category of neurocristopathy. It is the end result of mosaicism secondary to postzygotic mutation in the early embryonic period which accounts for its variability in presentation.[1] The role of maternal transmission of human papilloma virus to ectodermal stem cells in fetal life as a cause for mosaicism has also been postulated.[2] The linear nevus in SPFMS follows the lines of Blaschko, and in children with neurological involvement, it predominantly involves scalp and forehead. The linear nevus undergoes three different stages with time. In the first phase, the lesions are flat with poor development of hair and sebaceous glands as noticed in the occiput region of our child. Second phase is characterized by verrucous changes due to hormonal influence in puberty, and minor proportion rarely may be complicated by transformation to basal cell carcinoma in the third stage.[3] Van de Warrenburg et al. had initially observed that the predominant neurological manifestations included epilepsy (67%), intellectual impairment (61%), and focal neurological deficits in the form of hemiparesis.[4] Infantile spasms were the most frequent presentation as evident in our child. Others include partial motor seizures, generalized tonic seizures, and rarely startle epilepsy.[5] Hemimegalencephaly is the most commonly encountered brain anomaly with higher frequency of epilepsy (94%) and intellectual impairment (73%).[6] To the best of our knowledge, posterior quadrantic hemimegalencephaly has not been described with SPFMS. We did not find any ocular abnormalities though colobomata, corneal vascularization, cataract, ipsilateral hypoplasia of optic radiation, and epibulbar choristoma are well-described associations.[7] Kyphosis, scoliosis, Vitamin D resistant rickets, patent ductus arteriosus, and arteriovenous malformation have also been observed. Isolated cases of horseshoe kidney, cystic kidney disease, antenatal hydronephrosis, and Wilms’ tumor have been reported. However, the child we report did not have any skeletal, renal, or cardiac anomalies.

Management of SPFMS includes a multidisciplinary approach with early detection of the other organ dysfunction. Prophylactic excision of the linear nevus is not advised as the risk of malignant transformation is very low in children.[8] The prognosis of SPFMS depends on the severity of organ dysfunction in the form of refractory epilepsy, cardiac arrhythmia, and malignant transformation.

CONCLUSION

Children with developmental delay or seizures should be carefully examined to identify the characteristic skin lesions. Once the diagnosis is suspected, a careful screening of other organs should be done to exclude associated anomalies.

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

Nil.

Conflicts of interest

There are no conflicts of interest.