April 17, 2013 Rajanya S. Petersson, MD; William A. Carey, MD; Dana M. Thompson, MD
article
Abstract
We report a case of alobar holoprosencephaly (HPE) and cebocephaly associated with uncontrolled maternal type 1 (insulin-dependent) diabetes mellitus. Alobar HPE is the most severe form of HPE. Patients with cebocephaly have ocular hypotelorism and a proboscis with a single, blind-ended nostril. Shortly after our patient was born, we were consulted for airway management, as the parents' goal was to bring their child home. A tracheostomy tube was placed, and choanal atresia repair was eventually performed. The infant was never decannulated, however, and she died at the age of 9 months of acute respiratory distress syndrome secondary to an upper respiratory infection. To the best of our knowledge, this case represents the longest reported survival of an infant with alobar HPE and cebocephaly. Decisions regarding the care of these infants should be made in a collaborative, multidisciplinary fashion, with special attention paid to the primary caregivers' goals of care.
April 17, 2013 Danielle M. Blake, BA; Senja Tomovic, MD; Robert W. Jyung, MD
article
When a congenital cholesteatoma is diagnosed early as a localized circumscribed mass, it can be resected with a very low risk of recurrence.
January 24, 2013 Hernan Goldsztien, MD; Kevin D. Pereira, MD
article
The finding of bilateral acute mastoiditis in an infant should prompt a search for underlying predisposing causes.
October 31, 2012 Aye Jane Sow, MS(ORL-HNS); Jeevanan Jahendran, MS(ORL-HNS); Charng Jeng Toh, MS(Neurosurg); Thean Yean Kew, FRCR
article
Abstract
Localized sphenoethmoid sinusitis in children is a rare occurrence. It is usually overlooked because of the misconception that the sinuses are not developed. We describe a case of localized acute sphenoid and right posterior ethmoid sinusitis that presented as right frontobasal subdural empyema and multiple deep cerebral abscesses. Morbidity from subdural empyema in children is high. Early diagnosis and treatment based on recognition that the etiology might involve the paranasal sinuses affects the overall prognosis.
October 8, 2012 Joel Y. Sun, BA; Ron B. Mitchell, MD; Seckin O. Ulualp, MD
article
After excision, a histologic finding of an epithelial lining without ectopic thyroid tissue confirms the diagnosis of a lingual thyroglossal duct cyst.
October 4, 2012 Tripti Maithani, MS; Debraj Dey, MS; Chandermohan Sharma, MS
article
Abstract
A 12-year-old boy presented with subcutaneous emphysema of the face, neck, and upper chest. He had no significant history that suggested any specific cause, and initial investigations revealed no underlying pathology. Computed tomography of the chest detected pneumomediastinum. The patient was managed conservatively, and he responded. He was discharged 7 days after admission with a complete resolution of the emphysema. To the best of our knowledge, this is the first reported case of spontaneous pneumomediastinum presenting as cervicofacial swelling in a child without any other symptoms.
September 7, 2012 Michael W. Chu, MD; Alice Werner, MD; Stephanie A. Moody-Antonio, MD
article
Abstract
Juvenile xanthogranuloma (JXG) is a benign, non-Langerhans cell histiocytic lesion that generally affects infants and children. These lesions characteristically appear as a solitary, yellow, cutaneous nodule of the head, neck, or trunk. Subcutaneous and extracutaneous forms can involve the gastrointestinal tract, kidney, lung, gonads, pericardium, central nervous system, temporal bone, larynx, and eye. We describe the clinical presentation, imaging, histochemical findings, and management of a solitary JXG of the tympanic membrane in a 17-month-old girl. The patient underwent surgical resection and was without disease several months following surgery and reconstruction of the defect. To the best of our knowledge, this is the first reported case of a JXG of the tympanic membrane.
July 5, 2012 Ross Shockley, MD; Soham Roy, MD
article
Allergic fungal rhinosinusitis most often occurs in adolescents or young adults who exhibit nasal obstruction, congestion, purulent or clear rhinorrhea, anosmia, and headache--classic manifestations of chronic sinusitis.
July 5, 2012 Matthew L. Carlson, MD; Amy M. Saleh, MD; Keith J. Kaplan, MD; Shelagh A. Cofer, MD
article
Abstract
We describe the fifth published report of a mesenchymal hamartoma presenting as a cheek mass. A 5-month-old infant was brought to our institution for evaluation of an enlarging left-sided congenital cheek mass. Over time, the lesion had begun to cause significant facial asymmetry and oral incompetence. Radiologic imaging revealed an approximate 2.5 x 3.5-cm, noncystic lesion located in the left buccal space, separate from the mandible and surrounding the salivary glands. Magnetic resonance imaging (MRI) sequences demonstrated an isointense, T1-weighted lesion with avid gadolinium uptake, and increased intensity of T2-weighted sequences. The patient subsequently underwent biopsy and subtotal resection through a left gingivobuccal incisionwith the goal of improving lip contour and facial symmetry.Histologic examination revealed an admixed arrangement of mature smooth muscle, vascular, adipose, and neural tissue elements within a slightly myxoid stroma, consistent with a mixed mesenchymal hamartoma. An 8-month postoperative MRI demonstrated near-total removal without evidence of regrowth. While rare, hamartomas should be included in the differential diagnosis of a slow-growing pediatric head and neck mass. Gross total resection may provide cure; however, given this lesion’s benign nature, less-than-complete resection should be considered when lesions infiltrate opposing critical structures. Thorough clinical and histologic evaluation is critical to avoid overly aggressive treatment and unnecessary morbidity.
April 30, 2012 Marc C. Thorne, MD, MPH, Assistant Professor, Associate Program Director
article
Although gross pathologic analysis may seem like a good alternative to examining every specimen microscopically, from the point of view of cost-effectiveness, it is the worst option and is quite unlikely to identify significant pathology.
April 30, 2012 Lei Zhuang, MD; Christin L. Sylvester, DO; Jeffrey P. Simons, MD
article
Abstract
A congenital lacrimal fistula is a rare developmental anomaly, usually unilateral. While it is often asymptomatic, some patients present with epiphora or discharge. We report the case of a 4-year-old boy with bilateral lacrimal fistulae. No other systemic, nasal, or ocular anomalies were found. In the absence of significant symptoms, we decided on a course of observation. In this article, we discuss the embryologic basis of congenital lacrimal fistulae, as well as the typical presentation and possible treatment modalities. The presence of a lacrimal fistula is an indication to search for a variety of underlying systemic and ocular anomalies.
March 31, 2012 Jaimie DeRosa, MD and Jeffrey R. Smit, MD
article
Abstract
Myxoid malignant fibrous histiocytoma is a rare type of pediatric non-rhabdomyosarcoma soft-tissue sarcoma. The case of a 5-year-old girl is presented, highlighting the potential for multiple pitfalls and aberrant differential diagnoses that need to be identified for successful treatment of pediatric myxofibrosarcomas. An awareness of these tumors and a call for standardized postsurgical treatment protocols is necessary in order to successfully treat children with this disease.
