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Letters to Editor
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A rare association of Gorlin–Goltz syndrome
Sir,
Gorlin–Goltz syndrome is an autosomal dominant disorder
presenting with various features. The primary findings include
the presence of odontogenic keratocysts (OKC), basal cell
carcinoma, palmar or plantar pits, and bilamellar calcifications
of the falx cerebri.[1] The diagnosis is established by the
presence of two major criteria or one major criterion and two
minor criteria. Over 100 minor criteria have been reported in
the literature for diagnosing Gorlin–Goltz syndrome. Here,
we report a case of Gorlin–Goltz syndrome with hitherto
unreported association of absent septum pellucidum.
A 36‑year old woman presented with complaints of facial
swelling for 3 months with mild pain. There was no history of
seizures. On clinical examination, the patient had mild frontal
bossing. An orthopantomogram showed a large cyst in the right
hemimandible. Computed tomography of the brain showed
bilamellar falx cerebri calcification, absent septum pellucidum
and hypoplasia of the corpus callosum, and fibrous dysplasia
of bilateral maxillary sinuses [Figures 1 and 2]. Magnetic
Neurology India | Volume 66 | Issue 3 | May‑June 2018 847
Sachin Sureshbabu, Ivy Sebastian, Sudhir Peter1,
Chindripu Sobhana1, Gaurav K Mittal
Department of Neurology, St Stephen’s Hospital, New Delhi,
1
Department of Pathology, Medall Healthcare Private limited,
Kerala, India
Address for correspondence:
Dr. Sachin Sureshbabu,
Department of Neurology, St Stephen’s Hospital,
New Delhi - 110 054, India.
E‑mail: drsachins1@rediffmail.com
This is an open access journal, and articles are distributed under the terms of the Creative
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Access this article online
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DOI:
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How to cite this article: Sureshbabu S, Sebastian I, Peter S,
Sobhana C, Mittal GK. Retracing the natural history of Dravet
syndrome: Report and review of literature. Neurol India 2018;66:844-7.
resonance imaging (MRI) also showed the absent septum
pellucidum and hypoplasia of corpus callosum [Figure 3].
Gorlin–Goltz syndrome, also known as basal nevus syndrome,
is an autosomal dominant hereditary syndrome presenting
with multisystem involvement including the integumentary,
nervous, endocrinal, and skeletal systems. It was first reported
by Jarisch and White in 1894. Gorlin and Goltz further detailed
the clinical syndrome.[2]
Evans et al., established the guidelines to diagnose Gorlin–Goltz
syndrome that include the presence of two major, or one major
and two minor criteria.[3]
The major criteria are: Multiple basal cell carcinoma or one
occurring under the age of 20 years; histologically proven OKCs
of the jaws; palmar or plantar pits (three or more); bilamellar
calcification of the falx cerebri; bifid, fused, or markedly
splayed ribs; and, first‑degree relative with nevoid basal cell
carcinoma (NBCC) syndrome.
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Letters to Editor

The minor criteria are: Macrocephaly; a congenital malformation
including a cleft lip or palate, frontal bossing, coarse face,
moderate or severe hypertelorism; other skeletal abnormalities
such as Sprengel deformity, marked pectus deformity and/or
marked syndactyly of the digits; radiological abnormalities
including bridging of the sella turcica, vertebral anomalies
such as hemivertebrae, fusion or elongation of the vertebral
bodies, modelling defects of the hands and feet, or flame
shaped hands or feet; ovarian fibroma; and, the presence of a
medulloblastoma.
Our patient had multiple OKCs, calcified falx cerebri
(2 major criteria), frontal bossing, and hypoplasia of the corpus
callosum (2 minor criteria).
The incidence of the Gorlin–Goltz syndrome is estimated
at 1 in 50,000 to 150,000 in the general population,[4] with
equal distribution among both the sexes.[5] About 10% of the
patients may present with a malignant neoplasm or a basal
cell carcinoma.[4] Simple keratocysts are more common in
male patients , but more female patients with NBCC develop
OKCs.[5]

Various central nervous system abnormalities such as mental

retardation, dural calcification, bridging of the sella, agenesis of
the corpus callosum, congenital hydrocephalus, and occurrence
of medulloblastoma have been reported in association with
Gorlin–Goltz syndrome [Table 1].[6‑11]

As per our literature review, no case of Gorlin–Goltz syndrome

has been reported in association with an absent septum
pellucidum.

Declaration of patient consent

The authors certify that they have obtained all appropriate
a b patient consent forms. In the form the patient(s) has/have
Figure 1: (a) Axial CT scan showing the odontogenic keratocysts (arrow) in the given his/her/their consent for his/her/their images and
mandible; (b) Axial CT scan showing odontogenic keratocysts (arrow) in the maxilla other clinical information to be reported in the journal. The

a b c
Figure 2: (a) Sagittal CT scan showing calcification of the falx cerebri (arrows); (b) Coronal CT scan showing absent septum pellucidum; (c) Axial CT scan showing fibrous
dysplasia of the maxillary sinuses (arrows)

a b c
Figure 3: (a) Axial MRI showing odontogenic keratocysts (arrow) in the mandible; (b) Coronal MRI showing absent septum pellucidum; (c) Sagittal CT scan showing
hypoplasia of the corpus callosum

848 Neurology India | Volume 66 | Issue 3 | May‑June 2018

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Letters to Editor

Table 1: CNS characteristics of Gorlin‑Goltz Syndrome in various reported cases

Pruvost Habibi et al. Titinchi et al. Bomfin et al. Fuji et al. (2014) Mazzuoccolo This case
et al. (2006) (2010) Iran[7] (2013) South (2013) Brazil[9] Japan[10] et al. (2014) (2017) India
France[6] Africa[8] Argentina[11]
No. of cases 22 17 15 14 157 1 1
Odontogenic KCT 62 100 100 100 86.3 Present Present
Palmar and plantar pits 45 74 26.7 35.7 69.2 Absent Absent
Basal cell carcinoma 100 43 20 64.3 37.8 Absent Absent
CNS findings
Calcification of falx cerebri 66 89 40 42.8 79.4 Present Present
Bridging sella turcica 0 0 0 0 23.7 Absent Present
Agenesis of corpus callosum 0 0 0 0 0 Present Present
Hydrocephalus 0 0 0 0 16.2 Absent Absent
Medulloblastoma 13 0 0 0 12.5 Absent Absent

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.
References
1. Stoelinga PJ, Peters JH, van de Staak WJ, Cohen MM Jr. Some new
findings in the basal‑cell nervus syndrome. Oral Surg Oral Med Oral
Pathol 1973;36:686‑92.
2. Gorlin RJ, Goltz RW. Multiple nevoid basal‑cell epithelioma, jaw
cysts and bifid rib. A syndrome. N Engl J Med 1960;262:908‑12.
3. Evans DG, Sims DG, Donnai R. Family implications of neonatal
Gorlin’s syndrome. Arch Dis Child 1991;66:1162‑3.
4. Walter  AW. Gorlin syndrome. Available from: http://www.
emedicine.com/PED/topic890.htm.
5. Maroto MR, Porras JL, Saez RS, de los Rios MH, Gonzalez LB.
The role of orthodontist in the diagnosis of Gorlin syndrome. Am J
Orthod Dentofacial Orthop 1999;115:89‑98.
6. Pruvost‑Balland C, Gorry P, Boutet N, Magnaldo T, Mamelle G,
Margulis  A, et al. Clinical and genetic study in 22  patients
with basal cell nevus syndrome. Ann Dermatol Venereol
2006;133:117‑23.
7. Habibi A, Jafarzadeh H. Nevoid basal cell carcinoma syndrome:
A  17‑year study of 19  cases in Iranian population  (1991‑2008).
J Oral Pathol Med 2010;39:677‑80.
8. Titinchi F, Nortje CJ, Parker ME, van Rensburg LJ. Nevoid basal
cell carcinoma syndrome: A  40‑year study in the South African
population. J Oral Pathol Med 2013;42:162‑5.
9. Bomfin LE, Vivas AP, Rocha AC, Achatz MI, Pinto CA, Alves FA.
Keratocystic odontogenic tumor related to nevoid basal cell
carcinoma syndrome: Clinicopathological study. Braz J Oral Sci
2013;12:23‑9.
10. Fujii K, Miyashita T. Gorlin syndrome (nevoid basal cell carcinoma
syndrome): Update and literature review. Pediatr Int 2014;56:667‑74.
11. Mazzuoccolo  LD, Martinez  MF, Muchnik  C, Azurmendi  PJ,
Stengel F. Síndrome de carcinoma basocelular nevoide con agenesia
de cuerpo calloso, mutación en PTCH1 y ausencia de carcinoma
basocelular. Medicina (B. Aires) 2014;74:307‑10.
Sunil Kumar, Ruthira Eshanth,
Venkatraman Indiran1, Kalaichezhian Mariappan2,
Prabakaran Maduraimuthu1
Resident, 1Professor, 2Asst. Professor Department of
Radiodiagnosis, Sree Balaji Medical College and Hospital,
Chennai, Tamil Nadu, India
Address for correspondence:
Dr. Sunil Kumar,
Resident, Department of Radiodiagnosis,
Sree Balaji Medical College and Hospital. No. 7, CLC Works Road,
Chromepet, Chennai - 600 044, Tamil Nadu, India.
E‑mail: sunilmed@gmail.com
This is an open access journal, and articles are distributed under the terms of the Creative
Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to
remix, tweak, and build upon the work non-commercially, as long as appropriate credit
is given and the new creations are licensed under the identical terms.
Access this article online
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DOI:
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How to cite this article: Kumar S, Eshanth R, Indiran V, Mariappan K,
Maduraimuthu P. A rare association of Gorlin–Goltz syndrome. Neurol
India 2018;66:847-9.

Neurology India | Volume 66 | Issue 3 | May‑June 2018 849

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