|Year : 2020 | Volume
| Issue : 2 | Page : 84-87
Haberland syndrome: Encephalocraniocutaneous syndrome presenting as status epilepticus
V S.V. Prasad, Anzad Madathil Amanullah
Pediatric Intensive Care Unit, Lotus Hospitals for Women and Children, Hyderabad, Telangana, India
|Date of Submission||06-Feb-2020|
|Date of Decision||25-Feb-2020|
|Date of Acceptance||02-Mar-2020|
|Date of Web Publication||10-Apr-2020|
Dr. V S.V. Prasad
#6-2-29, Lotus Hospitals for Women and Children, Lakdikapul, Hyderabad, Telangana
Source of Support: None, Conflict of Interest: None
We report a 5-year-old female child who presented with fever and status epilepticus with a history of global developmental delay, patchy alopecia over the frontal region, and bilateral dermolipoma in the conjunctiva and sclera. These findings are consistent with a diagnosis of encephalocraniocutaneous lipomatosis. This is a rare condition reported infrequently across the world. The child also had the specific neurological manifestations of this condition, specifically epilepsy presenting as status epilepticus.
Keywords: Encephalocraniocutaneous lipomatosis, haberland syndrome, status epilepticus
|How to cite this article:|
Prasad V S, Amanullah AM. Haberland syndrome: Encephalocraniocutaneous syndrome presenting as status epilepticus. J Pediatr Crit Care 2020;7:84-7
|How to cite this URL:|
Prasad V S, Amanullah AM. Haberland syndrome: Encephalocraniocutaneous syndrome presenting as status epilepticus. J Pediatr Crit Care [serial online] 2020 [cited 2020 May 31];7:84-7. Available from: http://www.jpcc.org.in/text.asp?2020/7/2/84/282221
| Introduction|| |
Status epilepticus is a common diagnosis encountered in the pediatric intensive care unit (PICU). We report a rare etiology of status epilepticus, i.e., Haberland syndrome. Encephalocraniocutaneous lipomatosis is a rare neurocutaneous condition defined in 1970 by Haberland and Perou. This condition mostly involves unilateral ectodermal and mesodermal tissues of the skin/scalp, eyes, and brain. Till date, around eighty cases have been reported, with some of them being in the pediatric age group. A few of these children are known to have brain atrophy with global developmental delay. A third of them are known to develop epilepsy warranting treatment. This condition is also known as Fishman syndrome.
| Case Report|| |
A 5-year-old Indian female child presented with a history of fever for 1 day, followed by multifocal convulsions lasting for around 10 min. She was admitted with a working diagnosis of status epilepticus. She was evaluated at a medical center and commenced on antiepileptic medications and referred to our hospital. On obtaining a detailed history, we found that this was her third episode of seizures. She had her first episode of seizure in the immediate neonatal period lasting for a few minutes, and she was admitted into the neonatal intensive care unit for a couple of days. She was noted to have a patch of alopecia in the frontal area of the scalp. She also had a bony swelling in the right temporomandibular area. There were also lesions involving the conjunctiva and sclera of both eyes. The second episode of seizure occurred around 3 years of age, presenting as status epilepticus, which was associated with fever. She was on antiepileptic medications since then, which were discontinued by the parents after 2 months without proper medical advice. She was lost for follow-up for an extended length of time. At the time of this admission, she underwent investigations for a febrile illness, wherein she was diagnosed with acute dengue fever with warning signs. She was treated according to the standard PICU protocol for her dengue fever and status epilepticus.
Her developmental history had revealed a global developmental delay. She started walking at 3 years of age, with some weakness in the left lower limb causing her to limp. She underwent a magnetic resonance imaging scan previously at 1 year of age, which revealed an arachnoid cyst and bilateral cerebellopontineangle lipomas. There was also atrophy of the right cerebral hemisphere noted in this scan. A repeat computed tomography (CT) scan was performed before this admission to review any progression of the lesions. The CT scan revealed no change in any of her lesions in the brain. We would like to report the phenotype of this child and describe each of the specific features we observed. The first striking feature was the alopecic patch in the frontal scalp area [Figure 1]. This patch of skin is called nevus psiloliparus, which is a hairless fatty tissue nevus. The next striking feature was the lesions in her eyes. There were epibulbar choristoma and connective tissue nevus in the eye [Figure 2]. As mentioned, seizures are common in these children, and our patient had them as early as the neonatal period. Unfortunately, the parents chose to discontinue the treatment. During this admission, she had presented to us with a breakthrough seizure. She was also noted to have mild developmental delay with a developmental age of 3½ years with a chronological age of 5 years. The other external phenotype noted was the notable bony swelling in the right temporal bone, which was a calvarial exostosis. On neurological examination, she was found to have mild left-sided hemiparesis, especially involving the lower limbs with a subtle circumduction gait. Her brain imaging showed atrophy of the right cerebral hemisphere and cerebellopontine tumors (lipoma) bilaterally [Figure 3] and [Figure 4].
| Discussion|| |
Encephalocranialcutaneouslipomatosis is a rare condition which is thought to have somatic mosaicism as the pathophysiology. It is rare and has no preference for gender or race. The dysgenesis of the neural tube crest is another hypothesis for this condition. The syndrome has multisystem involvement of the brain, skin, bone, and eyes.
There are diagnostic criteria for the diagnosis of encephalocraniocutaneous lipomatosis which was proposed by Hunter and modified by Moog [Table 1].
The major and minor criteria are mentioned in the table.
A definite case is one in which
- Three systems are involved, with major criteria ≥2 or
- Three systems involved, proven nevus psiloliparus (NP) or possible NP and ≥1 of minor skin criteria 2–5
- Two systems involved with major criteria, one of which proven NP +. ≥1 minor skin criteria 2–5.
Probable case is defined as one with,
- Two systems involved with major criteria in both
- Two systems involved with proven or possible NP.
Clinically, the main differential diagnosis include proteus syndrome, neurofibromatosis, Sturge– Weber syndrome More Details, epidermal nevus syndrome, and Goldenhar syndrome. The natural course of the disease can allow some children to lead normal lives. Some of them can have the central nervous system (CNS) morbidity affecting their quality of life. The child may develop seizures, sometimes facial paralysis, hemiplegia, spasticity of the opposite limb, sensorineural hearing loss, and behavioral changes. There is an increased risk of developing CNS tumors in these children which includes low-grade glioma and astrocytoma., Other neoplasms such as extrapharyngeal angiofibroma of the gingiva and papillary glioneuronal tumor, is also documented. Hence, regular screening for these tumors is an essential part of follow-up care. The ocular manifestations can be treated by surgical techniques based on the extent of the choristoma. There is no specific therapy for the condition except for anticonvulsant therapy for seizures or status epilepticus and cosmetic treatment for the skin and ocular lesions, but regular follow-up for the child for the above-mentioned complications are imperative.
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], [Figure 3], [Figure 4]