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| Year : 2018 | Volume
: 66
| Issue : 3 | Page : 847-849 |
A rare association of Gorlin–Goltz syndrome
Sunil Kumar1, Ruthira Eshanth1, Venkatraman Indiran2, Kalaichezhian Mariappan3, Prabakaran Maduraimuthu2
1 Resident, Department of Radiodiagnosis, Sree Balaji Medical College and Hospital, Chennai, Tamil Nadu, India
2 Professor, Department of Radiodiagnosis, Sree Balaji Medical College and Hospital, Chennai, Tamil Nadu, India
3 Asst. Professor Department of Radiodiagnosis, Sree Balaji Medical College and Hospital, Chennai, Tamil Nadu, India
| Date of Web Publication | 15-May-2018 |
Correspondence Address:
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
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.232340
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 |
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 [Figure 1] and [Figure 2]. Magnetic resonance imaging (MRI) also showed the absent septum pellucidum and hypoplasia of corpus callosum [Figure 3]. | Figure 1: (a) Axial CT scan showing the odontogenic keratocysts (arrow) in the mandible; (b) Axial CT scan showing odontogenic keratocysts (arrow) in the maxilla
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 | 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)
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 | 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
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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; h istologically 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.
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],[7],[8],[9],[10],[11] | Table 1: CNS characteristics of Gorlin-Goltz Syndrome in various reported cases
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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 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.
| » 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.  [ PUBMED] |
| 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. [ PUBMED] |
| 3. | Evans DG, Sims DG, Donnai R. Family implications of neonatal Gorlin's syndrome. Arch Dis Child 1991;66:1162-3. |
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| 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. [ PUBMED] |
| 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. [ PUBMED] |
| 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. [ PUBMED] |
| 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. [ PUBMED] |
| 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. |
[Figure 1], [Figure 2], [Figure 3]
[Table 1]
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