Duplication of the Pituitary Gland (DPG)-Plus Syndrome Associated With Midline Anomalies and Precocious Puberty: A Case Report and Review of the Literature

Duplication of the pituitary gland (DPG)-plus syndrome is a very rare developmental disorder with few cases described in the literature and characterized by multiple midline and central nervous system malformations. The hypothalamus and hypophysis involvement may be clinically associated with endocrine abnormalities. A 5.9-year-old female child was admitted to our Clinic for premature thelarche and acceleration of growth. DPG-plus syndrome with paired infundibula and pituitary glands was diagnosed after birth, when she appeared small for gestational age and she presented with lingual hypoplasia, cleft palate, right choanal stenosis, nasopharyngeal teratoma, and facial dysmorphisms. Neuroimaging revealed a duplication of the infundibula, the pituitary gland, and the dens of the epistropheus despite surgical removal of a rhino-pharyngeal mass performed at the age of two months. An array-CGH revealed a 2p12 deletion. At our evaluation, bone age assessment resulted advanced and initial pubertal activation was confirmed by Gonadotropin-Releasing Hormone stimulation test. Hormonal suppression treatment was started with satisfactory results. This case shows that DPG-plus syndrome must be considered in presence of midline and craniofacial malformations and endocrinological evaluations should be performed for the prompt and appropriate management of pubertal anomalies.

Congenital Bilateral Dacryocystocele with Nasal Pyriform Aperture Stenosis

Congenital bilateral dacryocystocele with concomitant congenital nasal pyriform aperture stenosis is a very rare case we seen in the paediatric age group. We report a case referred by the paediatric department to rule out choanal stenosis. The referring department had difficulty to insert a feeding tube to the patient. Nose and throat examination showed reduce misting on cold spatula test and unable to introduce nasoendoscope into both nostrils, which indicates obstruction. Radiological investigation revealed as congenital dacryocystocele with nasal pyriform aperture stenosis. The patient was managed surgically with good recovery.

Bilateral choanal stenosis in a craniosynostosis child: a case report

<p class="abstract">Congenital bilateral choanal stenosis is a rare developmental condition and is highly associated with craniosynostosis syndromes. It can present with life threatening asphyxia. Diagnosis is made clinically using simple bedside tests and nasoendoscopy. Computed tomography of paranasal sinus confirms the diagnosis and facilitates pre-operative planning. Although the definitive treatment is surgery, the surgical options are based on involvement of unilateral or bilateral as well as bony or membranous. We report a rare case of bilateral choanal stenosis in a child with Pfeiffer syndrome who presented with severe respiratory distress at day 32 of life. Clinically, there was failure to insert suction catheter size 6 French through both nasal cavities. A high-resolution computed tomography (HRCT) of paranasal sinus confirmed the diagnosis of bilateral choanal stenosis. Endoscopic repair of the choanal stenosis was performed and stent was inserted for 14 days. Post-operatively, there was no evidence of restenosis after 3 months of clinical follow up.</p><p class="abstract"> </p>

Stentless mirrored L-shaped septonasal flap versus stented flapless technique for endoscopic endonasal repair of bilateral congenital choanal atresia: a prospective randomised controlled study

Objectives:To compare the outcomes of endoscopic repair of bilateral congenital choanal atresia using a flap technique without stenting versus endoscopic repair using stenting without a flap.Methods:A prospective randomised controlled study was conducted, comprising 72 patients with bilateral congenital choanal atresia. The patients were randomised into two groups. Group A (42 patients) underwent endoscopic repair using a mirrored L-shaped flap without stenting, and group B (30 patients) underwent endoscopic repair using stenting without a flap.Results:At a mean follow-up period of 18.2 months, endoscopic assessment revealed a patent posterior choana in 81 per cent and 83.33 per cent of patients in group A and group B respectively. Choanal stenosis occurred in 21.40 per cent and 33.33 per cent of patients in group A and group B respectively. Granulation tissue was observed in 28.6 per cent and 53.3 per cent of patients in group A and group B respectively.Conclusion:The endoscopic approach utilising a flap without stenting is safe and effective, with a high success rate.

Rarely seen nasal congenital problems causing neonatal upper respiratory obstruction: a case series

Since newborns are obligatory nasal breathers, upper respiratory tract problems may sometimes be life threatening. The most common pathology causing dyspnea and stridor in newborns is laryngomalacia. Nasal cavity pathologies that risk the neonatal airway are more rarely met. These anomalies may be seen either as solitary anomalies or as a part of a syndrome. While choanal atresia is one of the best-known nasal cavity anomalies, choanal stenosis, congenital nasal mid-line masses, congenital nasal pyriform aperture stenosis, and nasal tip anomalies are more rarely seen structural pathologies. Choanal atresia may be present either as an isolated congenital anomaly or as a part of CHARGE syndrome. Some rare chromosome anomalies may also cause significant problems during nasal respiration in newborns. With this study, we presented a case series of newborns with pathologies that affected nasal respiration. Although the diagnosis and treatment of choanal atresia and congenital dacryocystocele are well known, the information on the diagnosis and treatment of the other two uncommon cases are limited. With this study, we aimed to contribute to the literature by presenting our approach in six cases having congenital pathologies that cause nasal respiratory obstruction.