Unusual Case of Combined Gliomeningeal Heterotopia on the Nose of an Infant.

Nasal glial heterotopia ("nasal glioma") and cutaneous heterotopic meningeal nodules ("primary cutaneous meningioma") are rare congenital lesions characterized by the presence of heterotopic mature cerebral tissues. Nasal glial heterotopia occurs predominantly in the nasal area and typically does not contain meningothelial elements, whereas heterotopic meningeal nodules occur predominantly on the scalp and do not contain glial elements. In this article, we report an unusual case of cutaneous heterotopia on the nose of an infant composed of both glial and meningothelial elements. The glial component was characterized by irregular islands of predominantly astrocytic cells, on a fibrillary background. The meningothelial component was characterized by bland ovoid cells with focal intranuclear inclusions forming whorled arrangements, with associated psammomatous calcification. To our knowledge, this is the first time such a lesion has been documented. It has also provided us with an opportunity to review the literature regarding heterotopic deposits of both glial and meningothelial tissues.

Bilateral Cleft Lip and Palate, With Facial Dysplasia: Interdisciplinary Treatment and Long-Term Follow-Up.

Bilateral complete clefts represent the result of an incomplete fusion with all the morphologic components present. It is well known that patients with bilateral cleft lip and palate have typical characteristics such as insufficient medial face development with an orthodontic class III tendency, flat nose and short columella with abnormal nasolabial angle, bilateral oronasal fistulas, alterations in the number and position of the lateral incisors, and agenesis or supernumerary teeth. Successfully solving these cases, results in a difficult challenge and studies showing extended follow-up are not frequent. Bilateral complete clefts, including medial facial dysplasia, are a rare condition, not only difficult to be included in any classification but also of complex solution. These patients require multiple surgical procedures throughout life, and long-term results are often still far from ideal. Due to surgical intervention and diminished intrinsic growth potential, surgical results may change from initially good into a progressively disappointing outcome. However, if the ideal timing and type of surgery are known, in combination with the intrinsic growth potential, these results could be ameliorated. A patient with complete bilateral cleft, presenting hypoplasia of philtrum and premaxilla, flat nose with rudimentary columella and septum, is reported. A description of her interdisciplinary treatment and long-term outcome with an adequate and stable result was observed. Being the intrinsic growth restriction mainly localized in the central mid-face, a protocol oriented to stimulate facial development during growth period could be essential to reduce the number of surgical procedures and prevent sequels. Early referral to a specialized center is mandatory to achieve a correct treatment and result.

[The heredity and the curvature of the nasal septum in the children]. / Nasledstvennost' i iskrivlenie peregorodki nosa u detei.

The objective of the present study was to elucidate the role of genetic and environmental factors in the development of the curvature of the nasal septum in the children by means of the twin method. A total of 171 twins were examined during the study. They included 27 pairs of monozygotic (MZ) twins and 1 triplet. There were 87 boys and 84 girls. All of them were distributed by age as follows: group 1 (3-7 years) - 97 children, group II (8-11 years) - 34 children, group III (12-15 years) - 40 adolescents. Taken together, the members of these groups accounted for 56.7%, 19.9%, and 23.4% of the participants of the study respectively. The prevalence of the nasal septum curvature among the children born after multiple pregnancies (MZ and dizygotic (DZ) twins) with such ENT pathology as the curvature of the nasal septum was estimated at 68.5% and 47.6% respectively. The intraparallel correlation analysis showed that both twins of a MZ pair presented with the curvature of the nasal septum in 12 (30.7%) pairs. The study has demonstrated the statistically significant difference in the frequency of concurrence of the nasal septum curvature between MZ and DZ twins (p=0.005). It is concluded that the results of the study give evidence that heredity and genetic factors greatly contribute to the formation of the curvature of the nasal septum in the children.

Classification of congenital nasal deformities: a proposal to amend the existing classification.

Congenital nasal anomalies are rare malformations with a broad spectrum of defects. The only existing classification strictly relating to nasal anomalies was presented by Losee et al. (Plast Reconstr Surg 113(2):676-689, 2004). The aim of this paper is to propose some suggestions, based on our current knowledge and experience gained by treating our patients in the clinic, in creating a specification of patients with congenital nasal anomalies. All patients with congenital nose defects treated in our health center were selected for this study. The research was retrospective and included years from 1995 to 2015. Nasal anomaly associated with cleft lip and palate was excluded. Patients were classified into four categories of congenital nasal anomalies, according to Losee et al. CLASSIFICATION: In the period of 20 years, 191 patients with congenital nasal anomalies were treated in our health center. Type 1 defects were found in 124 patients, type 2 in 15, type 3 in 32 and type 4 in 20 patients. The nasal defect accompanying craniofacial syndrome is the most common type of nose malformation. The nose cleft is not always a part of craniofacial clefts; isolated forms of such malformations can occur. Vascular anomalies, due to different etiology, categorization and treatment, should not be recognized as nasal malformation.

Campylorrhinus lateralis, Bilateral microphthalmia and odontoma temporalis in an Oldenburg Foal.

An Oldenburg colt with wry nose was autopsied after having lived for only 30 min. It presented cyanotic oral mucosae, underdeveloped eyes and a right-sided temporal osseous mass. The applicable nomenclature for the defects is discussed, and the potential etiopathogenesis is explored by describing the normal embryonic development of the affected body parts.

Reconstruction of Congenital Isolated Alar Defect Using Mutaf Triangular Closure Technique in Pediatric Patients.

Congenital isolated alar defects are extremely rare, occurring in approximately 1 in 20,000 to 40,000 live births. The patients are presented here of 2 pediatric patients operated on for congenital isolated alar defect. The reconstruction of congenital isolated alar defects was made in a 3-layered fashion. The skin defects were covered using the Mutaf triangular closure technique in which 2 cutaneous local flaps are designed in an unequal Z-plasty manner. Conchal cartilage graft was used between the skin and mucosal closure to replace the missing part of the lower lateral cartilage in these patients. The early results were promising in Patient 1, but sufficient improvement was detected in the alar cartilage postoperative follow-up period in Patient 2. Hence, this patient required revision 1 to 2 years postoperatively. This technique provides excellent aesthetic and functional results, except for this problem in Tessier 2 cleft patients. The use of the Stair step flap technique with Mutaf triangle closure technique achieved cosmetically and functionally excellent results in the reconstruction and repair of a large, irregular, narrow cleft, in the inadequate rotation of the lateral part of the lower lateral cartilage. However, because of this problem, evaluation of the long-term follow-up of patients is necessary.

Congenital Anomalies of the Nose.

Congenital anomalies of the nose range from complete aplasia of the nose to duplications and nasal masses. Nasal development is the result of a complex embryologic patterning and fusion of multiple primordial structures. Loss of signaling proteins or failure of migration or proliferation can result in structural anomalies with significant cosmetic and functional consequences. Congenital anomalies of the nose can be categorized into four broad categories: (1) aplastic or hypoplastic, (2) hyperplastic or duplications, (3) clefts, and (4) nasal masses. Our knowledge of the embryologic origin of these anomalies helps dictate subsequent work-up for associated conditions, and the appropriate treatment or surgical approach to manage newborns and children with these anomalies.

Bilateral dacryocystocele with an intranasal cyst as the cause of respiratory distress in a newborn.

A congenital dacryocystocele with an intranasal cyst is an uncommon lesion that is usually treated by ophthalmologists, although sometimes an otorhinolaryngologist is consulted first because of nasal obstruction. The nasal cavity is narrow in newborns and can easily be obstructed, even by small lesions. Prolapse or expansion of the cyst into the nose may lead to respiratory distress and difficulty in feeding, since newborns are obligate nose breathers. Here we report a case of bilatera dacryocystocele with intranasal extension in a 3-day-old female infant. The infant presented with respiratory distress and episodic desaturation and was managed successfully by bilateral endoscopic marsupialization of the intranasal cysts. This case report discusses the diagnosis and management and reviews the relevant literature. These finding suggest tha congenital dacryocystocele with an intranasal cyst must be considered in the differential diagnosis of newborns suffering from nasal respiratory difficulty.

The natural process of congenital nasolacrimal duct obstruction and effect of lacrimal sac massage.

This study aimed to examine the rate of symptomatic improvement of congenital nasolacrimal duct obstruction (CNLDO) in infants treated with conservative management within the first year of age. Other purpose of the study is to emphasize the relationship between spontaneous resolution time and effective lacrimal sac massage. Thirty-one infants were diagnosed to have CNLDO by an ophthalmologist prior to 3 months of age. In this study, 36 eyes of 31 patients were included with CNLDO. The patients were divided into two groups. Group 1 (28 eyes of 24 patients) was consisted of the patients who were applied effective lacrimal sac massage regularly during the follow-up period, and patients whose parents did not apply a regular lacrimal passage regularly were accepted as group 2 (8 eyes of 7 patients). Thirty-three eyes of 31 patients (18 rights and 15 left) successfully resolved with only conservative management (91.6 %). In these thirty-three eyes, one eye (3 %) resolved between 0 and 3 months, fourteen eyes (42.5 %) resolved between 4 and 6 months, eleven eyes (33.3 %) resolved between 7 and 9 months, and seven eyes (21.2 %) resolved between 10 and 12 months. CNLDO was resolved in 27 (96.2 %) of 28 eyes in group 1, and in group 2, six eyes (77.7 %) had resolvement. This difference was statistically significant (p = 0.001). The mean age of resolution was 6.8 ± 1.88 months in group 1, 10.3 ± 1.5 months in group 2 (p < 0.001). In light of our study, we believe that conservative management of CNLDO is highly successful. Our study provided a possible objective explanation for the efficacy of lacrimal sac massage. Emphasizing the importance of the massage to parents and describing in detail can reduce the risk of unnecessary surgical interventions.

Nasal hamartoma associated with duplicated pituitary.

Nasal hamartomas are rare congenital lesions. We describe a case of nasal hamartoma associated with pituitary duplication and other midline anomalies. A 40-year-old female with a history of breast cancer presented with nasal obstruction. Computed tomography and magnetic resonance imaging revealed a mass arising from the nasal septum, as well as duplication of the pituitary and a skull base canal that extended from the margin of the left pituitary fossa to the nasal mass. The mass was subsequently resected via a transnasal endoscopic approach and histology confirmed the presence of hamartoma. Nasal hamartomas are benign lesions that can be associated with other midline anomalies, such as duplicated pituitary, and can be managed conservatively.

Nasal congenital fibrolipomatous hamartoma in a premature infant.

Hamartomas are tumor-like lesions composed of tissue elements normally found at the site where they are located, but which grow in a disorganized manner. They generally occur at birth or soon after, although presentations during adult life have been reported. Hamartomas of the head and neck are very rare. The exact mechanisms behind the development of hamartomas remain unknown; however, their benign nature renders complete surgical excision sufficient for their management. Here, we describe a case of a premature infant with a hamartomatous polypoid lesion containing both fibrous and adipose components, originating from the dorsum of the nose. The differential diagnosis and management of hamartomas of the head and neck are also discussed. Although several cases series on precalcaneal fibrolipomatous hamartomas have been encountered in the literature, to the best of our knowledge, this is the first report of a nasally located congenital fibrolipomatous hamartoma.

Surgical correction of midline nasal dermoid sinus cysts.

Nasal dermoid sinus cysts (NDSCs) are rare congenital anomalies affecting approximately 1 in 30,000 live births. Nasal dermoid sinus cysts are unsightly, prone to infection, and, importantly, may communicate with the central nervous system. Treatment is complete surgical excision. This study retrospectively evaluated management of a large single-center cohort of intracranial NDSCs.Nineteen patients with NDSC were identified from all patients presenting to the Leeds craniofacial service between June 2000 and August 2008. Patient demographics, clinical presentation, preoperative investigations, and surgical procedures undertaken were analyzed.Mean age at presentation and surgery were 6.3 and 7.6 years, respectively. Fifty-three percent were males. Computed tomography (CT) and magnetic resonance imaging (MRI) were performed in 15 and 17 patients, respectively. One patient (5.3%) required local excision only. Eighteen (96.7%) underwent a bicoronal approach, and 13 (68.4%) of these required a craniotomy. The dura was opened in 7 (36.8%) patients. Neither CT nor MRI predicted the presence or absence of intracranial extension in all patients. Positive and negative predictive values for intracranial extension were 85.7% and 50% for CT and were 100% and 50.0% for MRI. Mean follow-up of 4.1 years shows no deep recurrences and 5 (26.3%) were superficial nasal recurrences only.A multidisciplinary approach can achieve good results with infrequent intracranial recurrence. We used a bicoronal approach to facilitate craniotomy when required intraoperatively because imaging is unable to diagnose intracranial extension with sufficient accuracy.

Developmental oronasal fistula of the incisive papilla.

Various terms (including patent nasopalatine fistula and patent nasopalatine duct) have been used to describe the presence of a developmental fistulous tract that connects the oral and nasal cavities through an oral opening located at the incisive papilla. Reportedly, this condition is a rare developmental variant; approximately 40 cases have been reported in the literature. Because awareness of this entity is important to avoid misdiagnosis, this article presents the clinical and conebeam computed tomography findings of two cases. Based on a review of the development of the nasopalatine structures in man, the authors propose that this entity be classified as a developmental oronasal fistula of the incisive papilla.

[Diagnostic and surgical approach to an hourglass-shaped nasopalatine glioma in an infant]. / Approche diagnostique et chirurgicale d'un gliome naso-palatin "en sablier" chez un nourrisson.

The authors report a case of glioma nasopalatine Multifoil in wallet, location-intra nasal and palatal left. The nasal glioma is a rare congenital malformation presenting as a nasal mass composed of neuroglial tissue heteropias resulting from an abnormality in embryonic development. It is a benign tumor that fits into the nosology of the masses of the midline. This abnormality arises primarily a diagnostic problem because often mistaken for a meningo-encephalocele or a nasal dermoid cyst. Localization nose and palate, an hourglass, is extremely rare if not exceptional; The computed tomography (CT) has enabled the accurate assessment of injury and has guided the choice of surgical technique. The resection was done successfully without recurrence. Histology examination of the surgical specimen confirmed the nature of astrocytic neuroglial tumor. The location of the tumor pedide palate to that of the left nostril is special and especially histological diagnosis of this congenital malformation.

Nasal Chondromesenchymal Hamartoma.

Nasal chondromesenchymal hamartoma (NCMH) is a rare, benign lesion of the sinonasal tract. It usually presents as a polypoid mass in infants and older children. Imaging studies and endoscopy are required to delineate the extent of the lesion and aid in its excision. This unusual lesion is composed of proliferating mesenchymal and cartilaginous elements. Recently, a genetic association between NCMH and DICER1 mutation has been established. It is important for pathologists to be familiar with this entity to avoid misdiagnosis since the lesion is benign and surgical excision is curative.

Complex rhinobronchial dystrophy and immunodeficiency: Chance association or exceptional congenital syndrome?

INTRODUCTION: We report a case of an exceptional syndromic association of apparently congenital rhinobronchial dystrophy associated with congenital anosmia and common variable immunodeficiency in a twelve-year-old girl. CASE SUMMARY: This young girl, born in 2000, consulted for the first time in 2012 for recurrent respiratory tract infections, refractory to all forms of treatment, starting in early childhood, associated with congenital anosmia and severe atrophic rhinitis as well as common variable immunodeficiency. The laboratory work-up essentially revealed IgG4 deficiency and imaging demonstrated bronchiectasis (lingula), multiple tracheobronchial diverticula, atrophic rhinitis and congenital anosmia with agenesis of the olfactory bulbs and sulci. DISCUSSION: After eliminating a number of differential diagnoses, we were left with the problem of the aetiology, the possible links between these various symptoms and the genetic basis for this apparently congenital complex rhinobronchial disease associated with common variable immunodeficiency. Do these various symptoms correspond to a chance association or an exceptional congenital syndrome that has not yet been identified in the literature? CONCLUSION: A review of the clinical and genetic literature did not enable us to propose a single diagnosis for these symptoms or this complex syndrome.

Novel use of high-flow nasal cannula therapy in the management of pyriform aperture stenosis: case report.

BACKGROUND: Pyriform aperture stenosis is a rare form of congenital nasal obstruction; it poses a management dilemma for otolaryngologists and physicians alike. It can result in poor weight gain and potentially life-threatening airflow obstruction. The challenge lies in the difficulty to predict which patients will require invasive operative management versus conservative therapy alone. CASE REPORT: This case demonstrates the successful use of high-flow nasal cannula therapy in a young child with pyriform aperture stenosis.

Elements of morphology: standard terminology for the nose and philtrum.

An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we introduce the anatomy of the nose and philtrum, and define and illustrate the terms that describe the major characteristics of these body regions.

Congenital bilateral dacryocystocele.

INTRODUCTION: Newborns are obligatory nasal breathers. Therefore, nasal obstruction can lead to cyanosis and desaturation. In spite of being very rare, congenital bilateral dacryocystocele is a possible etiology for neonatal respiratory distress. CASE SUMMARY: Case report of a male newborn with respiratory distress caused by a bilateral polypoid and bluish lesion occupying almost the entire inferior nasal meatus. Imaging confirmed bilateral dacryocystocele. Treatment was conservative. There was spontaneous drainage, with relief of respiratory distress. Discussion The diagnosis of congenital dacryocystocele is clinical, although imaging exams may be requested to confirm it. Treatment is controversial, because the natural history is variable. An initial conservative management may be recommended, but, if there is a permanent respiratory obstruction without improvement, surgical management is mandatory.

Neonatal respiratory distress secondary to bilateral intranasal dacryocystocoeles.

Obstruction of the nasolacrimal duct is a common congenital abnormality reported in up to 84% of neonatal patients [J. Yohendran, A.C. Wignall, E.J. Beckenham, Bilateral congenital dacryocystocoeles with concurrent intranasal mucocoeles causing respiratory distress in a neonate, Asian J. Surg. 29 (2) (2006) 109-111; M.J. Cunningham, J.J. Woog, Endonasal endoscopic dacryocystorhinostomy in children, Arch. Otolaryngol. Head Neck Surg. 124 (1998) 328-333; D. Guery, E.L. Kendig, Congenital impotency of the nasolacrimal duct, Arch. Ophthalmol. 97 (1979) 1656-1658]. Rarely, obstruction results in the development of an intranasal lacrimal duct cyst, or dacryocystocoele, which arises inferolateral to the inferior turbinate [H.R. Jin, S.O. Shin, Endoscopic marsupialisation of bilateral lacrimal sac mucoceles with nasolacrimal duct cysts, Auris Nasus Larynx 26 (1999) 441-445]. These lesions can cause nasal obstruction and, when bilateral, significant respiratory compromise. We present the case of a 3-day-old infant with bilateral intranasal lacrimal duct cysts causing nasal obstruction and intermittent respiratory compromise. The diagnosis was suspected on clinical examination and confirmed on MRI. The patient was successfully managed by bilateral endoscopic marsupialisation and probing of the nasolacrimal ducts. We also present a review of the literature surrounding investigation and management of intranasal lacrimal duct cysts.