A rare association of Gorlin–Goltz syndrome
Correspondence Address: Source of Support: None, Conflict of Interest: None DOI: 10.4103/0028-3886.232340
Source of Support: None, Conflict of Interest: None
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. 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].
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.
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.
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, with equal distribution among both the sexes. About 10% of the patients may present with a malignant neoplasm or a basal cell carcinoma. Simple keratocysts are more common in male patients, but more female patients with NBCC develop OKCs.
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].,,,,,
As per our literature review, no case of Gorlin–Goltz syndrome has been reported in association with an absent septum pellucidum.
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[Figure 1], [Figure 2], [Figure 3]