ai syndrome (PS) is a developmental disorder characterized by a me-dian cleft of the upper lip, midline polyps of the facial skin, and nasaland pericallosal lipomas. This congenital disease was first described
in 1987, and to the best of our knowledge, 60 cases have been reported inliterature to date, although the etiology remains unknown.1,2 Diagnosis ofPS is established from the presence of one or more of the diagnostic crite-ria in addition to a nasal lipoma. Magnetic resonance imaging (MRI) ishelpful in the identification of pericallosal lipomas and abnormal struc-tures of the third ventricle. Since the mentioned pathologies may lead to
Pai Syndrome: A Case Report anda Literature Review
AABBSSTTRRAACCTT Pai syndrome (PS) is a rare regional developmental defect of the face, mainly charac-terized by the variable association of midline cleft of the upper lip (MCL), facial cutaneous lipomas,midanterior alveolar process and nasal polyps and intracranial (pericallosal) lipomas. Its entire clin-ical spectrum is still poorly delineated and the etiology remains unknown. Very few cases of Pai syn-drome diagnosed prenatally have been described. Pai syndrome is usually diagnosed at birth.Differential diagnoses include Loeys-Dietz syndrome, Oculocerebrocutaneous syndrome, fron-tonasal dysplasia and Goldenhar syndrome, along with chromosomal anomalies. In this case report4-year-old female patient with nasal and pericallosal lipoma is presented and the clinical and radi-ological features of Pai syndrome were discussed with the literature review.
KKeeyywwoorrddss:: Pai syndrome; nasal lipoma; corpus callosum agenesis
ÖÖZZEETT Pai sendromu (PS), yüzün nadir görülen bir bölgesel gelişimsel kusuru olup, esas olarak nazalpolipler olmak üzere dudak yarığı, fasiyal deri lipomları, midanterior alveoler proses polipleri ve in-trakraniyal (perikallosal) lipomların kombinasyonları ile karakterizedir. Tüm klinik spektrumu ye-tersiz bir şekilde tanımlanmıştır ve etiyolojisi bilinmemektedir. Doğum öncesi tanı konulan çok azsayıda Pai sendromu vakası tanımlanmıştır. Pai sendromu genellikle doğumda teşhis edilir. Ayırıcıtanılar arasında kromozomal anomalilerin yanı sıra Loeys-Dietz sendromu, oküloserebrokutanözsendrom, frontonasal displazi ve Goldenhar sendromu sayılabilir. Bu yazıda nazal ve perikallosal li-pomlu 4 yaşında bir hasta sunuldu ve Pai sendromunun klinik ve radyolojik özellikleri literatüreşliğinde tartışıldı.
AAnnaahhttaarr KKeelliimmeelleerr:: Pai sendromu; nazal lipom; corpus kallozum agenezisi
Evren HIZALa,Ozan EROLb,Ceren BAŞa,Fuat BÜYÜKLÜa
aDepartment of Otorhinolaryngology,Başkent University Faculty of Medicine,Ankara, TURKEYbClinic of Otorhinolaryngology, Çankırı State Hospital, Çankırı, TURKEY
Re ce i ved: 17 Jan 2019Received in revised form: 30 Jan 2019Ac cep ted: 31 Jan 2019Available online: 18 Feb 2019
Cor res pon den ce:Ozan EROLÇankırı State Hospital, Clinic of Otorhinolaryngology, Çankırı, TURKEY/TÜRKİ[email protected]
This case report was presented as a poster atthe 38th National Congress of Otorhinolaryngology - Head and Neck Surgery, 26-30 October 2016, Antalya, Turkey.
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problems in respiration, alimentation or speech,early surgical intervention should be the treatmentof choice.2,3
The clinical findings and treatment of a 4-year-old female patient are discussed in this casereport, with references to relevant literature.
CASE REPORT
A 4-year-old female patient presented to ourclinic with complaints of a lump to the nose. Thelump, which protruded from the patient’s leftnostril, had been present since birth, but had in-creased in size gradually as she grew. The patienthad experienced constant nasal obstruction, madeworse with upper respiratory tract infections.The parents of the patient said that her situationhad started to affect her psychological wellbeing,and that she had started to pull and play with thelump. Prior to referral, the pediatrics departmentof another hospital had carried out a detailed ex-amination and had detected hypoplasia of thecorpus callosum and a midline pericallosallipoma.
A physical examination revealed a 1.5 cm softmass protruding from the left vestibule whichcaused obstruction of the left septal mucosa and afilled nasal passage (Figure 1). Magnetic resonance
imaging revealed dysplasia of the anterior part ofthe corpus callosum, as well as the presence of alipoma measuring 42x16 mm in superior perical-losal region, displacing the anterior pericallosal ar-tery. In addition, a nasal lipoma was detectedanteriorly in the left nasal cavity measuring 18x8mm, extending externally and impeding airflow(Figure 2a, b).
FIGURE 1: 1.5 cm soft mass protruding from the left vestibule causing a obstruc-tion sensation in the left septal mucosa and filling the nasal passage.
FIGURE 2: a) Axial MRI showing an 18 x 8 mm lipoma in the left nasal cavity impeding airflow and expanding externally from the nasal vestibule. b) MRI, Sagittal cut sho-wing the lipoma superior to the corpus callosum, displacing the pericallosal artery.
a b
Surgery was planned for the nasal mass. Theprocedure was explained to the family, and in-formed consent was duly obtained. The mass pro-truding from the left nasal vestibule wasendoscopically excised under general anesthesia.During an endoscopic evaluation, a lesion wasfound to be creating a bulge over the anterior sep-tal region extending to anterior border of the mid-dle concha. The septum had a normal appearancefrom the anterior border of the middle concha untilchoana. Initially, the part of the mass protrudingfrom the nasal vestibule was excised through sharpdissection, with bleeding controlled with bipolarcautery. Afterwards, the septal cartilage was iden-tified at the site of the sharp dissection and the sep-tal mucosa overlaying the perichondrium waselevated. The tissue causing the bulge was removedwith a microdebrider, after which, the openness ofnasal passage was ensured endoscopically. After thetransseptal sutures were made, Telfa tampons wereinserted bilaterally. Surgery was finalized withoutcomplication, and a postoperative histopathologicexamination confirmed a diagnosis of “fibromatoushamartoma”.
DISCUSSION
Clinical findings of Pai syndrome, in addition tonasal polyps, include superior alveolar processpolyps, a median cleft of upper lip, intracranial(pericallosal) lipomas and cutaneous polyps.1 Al-though the etiology of this syndrome remains un-known, it has been hypothesized that its mode ofinheritance is autosomal dominant.2-4 Differentialdiagnoses include Loeys-Dietz syndrome, Oculo-cerebrocutaneous syndrome, frontonasal dysplasiaand Goldenhar syndrome, along with chromoso-mal anomalies.5
PS presents at birth as a phenotype rangingfrom mild facial dysmorphism to severe anomaliesresembling frontonasal dysplasia. Advanced casesmay present as hypertelorism or bifid nose. A mid-line cleft lip with a midline nasal and facial polypusually appears as a bifid uvula and a high-archedpalate. Lipomas of skin in the frontal region mayhave cartilaginous content.2-4
Polyps are either situated in the nasal septumor extend into the nostril in addition to the septum.These anomalies may cause respiratory insuffi-ciency, a greater risk of respiratory infection,speech disorders or feeding difficulties.3
Congenital nasal masses are rarely encoun-tered, although encephalocele, meningocele,glioma, dermoid cyst, hemangioma and lipomashould be kept in mind when making a differen-tial diagnosis. For the differential diagnosis ofthese masses in the midline, invasive proceduressuch as biopsy should not be performed withoutMRI. Lipomas are the most common soft tissue tu-mors in the human body, being benign, slow-growing masses composed of mature fat cells.Although lipomas may form in all parts of thebody, they are less frequent in the nasopharynx,nasal cavity or paranasal sinuses when comparedto other parts, owing to the low fat content inthese regions.4
To the best of our knowledge, the first nasallipoma case reported in an adult patient was thatof a 21-year-old male patient, whose lipoma origi-nated from the posterior septum and which was ex-cised endoscopically. A further case report detaileda 34-year-old male patient with a subcutaneousmass originating from the dome of the rightvestibule that appeared to be a lipoma.5 In anothercase report, a lipoma was described presenting withnasal fullness and a 2 cm mass originating from theanterior septum.6 Only two cases of lipomas deriv-ing from paranasal sinuses have been reported todate.7,8 Carranza-Romero et al. reported on a 15mm congenital lipoma on the frontal medial line ina male newborn, in whom an MRI revealed thecomplete agenesis of the corpus callosum. Despitesome controversial findings related to frontal lipo-mas, the corpus callosum and frontonasal dysplasialipomas, changes in these disorders are thought tobe a result of the same underlying pathophysiologicmechanism. For this reason, researchers tend tosuggest central nervous system (CNS) imaging inneonates with median line craniofacial congenitallipomas.9
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CNS lipomas are rare, accounting for less than0.1 percent of all intracranial lesions. The majorityof CNS lipomas tend to emerge from the corpus cal-losum, and are identified as low-density areas withperipheral calcification. Few of the cases of PS re-ported in literature, including the present case, pre-sented with neurologic disorders. Furthermore,Pascual-Castroviejo et al. noted that none of theeight patients with frontonasal dysplasia and cor-pus callosum lipomas in their study presented withheadaches or convulsive episodes.10 Likewise, theneurologic development of our patient was normal,regardless of the presence of dysplasia of corpuscallosum and pericallosal lipoma evidence by im-aging.
A variation of expression as a result of a com-mon genetic defect during mesodermal differenti-ation has been proposed after a patient wasdescribed to have de novo reciprocal translocation,46,X,t(X;16)(q28;q11.2), although the mode of in-heritance is not clear.11 Autosomal dominant (AD)inheritance is suggested, on account of a male childhaving similar features to his father.12 Twin siblingswith PS were presented in one study. Based on theabove information, the risk of a first PS case or asecond case is considered low in families with nofamily history. Our patient had no family historyof PS.
Feeding and respiratory difficulties may occurin neonates that should be corrected as early as pos-
sible, and multi-stage craniofacial surgery may benecessary in many cases. The restoration of orbic-ularis oris muscle continuity and excisions of cuta-neous lipomas may be carried out during earlychildhood, although corrections of the nasal pyra-mid should be postponed until after puberty. Thecosmetic and functional restoration of buccal andnasal anomalies usually have very good outcomes.In our case, the nasal polypoid lesion was endo-scopically excised as it was causing respiratory aswell as psychological problems. Corneal or cataractsurgery can bring about improvement of vision forsome patients presenting with ocular anomalies,while an optical iridectomy may be necessary forcases presenting with corneal leukoma. Patientsshould be followed up regularly for any increase inintraocular pressure, and such follow ups should becarried out in cooperation with other disciplines ifanomalies of other systems are present concomi-tantly.13,14
The aim in this case study is to increase aware-ness of PS among otolaryngologists, and to aid inthe diagnosis of such disorders, since most of thecriteria are encountered in the head and neck area.A close relationship between midline congenitalmasses (e.g. lipoma, dermoid cyst) and CNS deficitshas been established in literature. We recommendCNS imaging for all neonates presenting with mid-line congenital masses so as to detect any accom-panying CNS involvement.
1. Pai GS, Levkoff AH, Leithiser RE Jr. Mediancleft of the upper lip associated with lipomas ofthe central nervous system and cutaneouspolyps. Am J Med Genet. 1987;26(4):921-4. [Crossref] [PubMed]
2. Morice A, Galliani E, Amiel J, Rachwalski M,Neiva C, Thauvin-Robinet C, et al. Diagnosticcriteria in Pai syndrome: results of a case se-ries and a literature review. Int J Oral Maxillo-fac Surg. 2019;48(3):283-90. [Crossref][PubMed]
3. Al-Mazrou KA, Al-Rekabi A, Alorainy IA, Al-Kharfi T, Al-Serhani AM. Pai syndrome: a re-port of a case and review of the literature. Int
4. Szeto C, Tewfik TL, Jewer D, Rideout A. Pai syndrome (median cleft palate, cuta-neous nasal polyp, and midline lipoma of the corpus callosum): a case report and lit-erature review. Int J Pediatr Otorhinolaryn-gol. 2005;69(9):1247-52. [Crossref][PubMed]
5. AbdollahiFakhim S, Bayazian G, Notash R. Nasal septal lipoma in a child: Pai syndrome or not? Int J Pediatr Otorhino-laryngol. 2014;78(4):697-700. [Crossref][PubMed]
6. Cho JH, Shim DB, Hong SC, Kim JK,Lipoma on the nasal septum. Korean J Oto-laryngol-Head Neck Surg. 2006;49(5):568-70.
7. Abulezz T, Allam K. Nasal subcutaneouslipoma, a case report. Rhinology. 2008;46(2):151-2.
8. Davis GE, Kernochan LE, True LD. Report ofa sphenoid sinus lipoma. Ear Nose Throat J.2012;91(2):73-9. [Crossref] [PubMed] [PMC]
9. Elsurer C, Hancı D, Cakir A, Dal T. Isolated in-traosseous lipoma of the ethmoid sinus. JCraniomaxillofac Surg. 2013;41(8):718-20.[Crossref] [PubMed]
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10. Pascual-Castroviejo I, Pascual-Pascual SI,Pérez- Higueras A. Fronto-nasal dysplasiaand lipoma of the corpus callosum. Eur J Pe-diatr. 1985;144(1):66-71. [Crossref] [PubMed]
11. Masuno M, Imaizumi K, Fukushima Y, TanakaY, Ishii T, Nakamura M, et al. Median cleft ofupper lip and pedunculated skin masses as-sociated with de novo reciprocal translocation
46,X,t(X;16)(q28;q11.2). J Med Genet.1997;34(11):952-4. [Crossref] [PubMed][PMC]
12. Rudnik-Schöneborn S, Zerres K. A further patients with Pai syndrome with autosomaldominant inheritance? J Med Genet.1994;31(6):497-8. [Crossref] [PubMed] [PMC]
14. Patil SB, Harsh S. Lipoma of Columella withseptal extension in Pai syndrome: report of arare case. BMC Ear Nose Throat Disord.2017;17:2. [Crossref] [PubMed] [PMC]
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