Fibromatosis colli,overlooked cause of neonatal torticollis: A case report

Fibromatosis colli or sternocleidomastoid tumor of infancy is also known as pseudotumor of the sternocleidomastoid muscle of infancy. Its symptoms show a palpable mass in the muscle and cause neonatal torticollis. This paper reports a case of fibromatosis colli, and typical ultrasonographic examination which is the non-invasive diagnostic intervention of choice. Conservatively continuous physiotherapy at the appropriate time will prevent and/or reverse neonatal torticollis.     

Sternocleidomastoid tumor of infancy: two cases of an interesting entity.

Sternocleidomastoid tumor of infancy (SCMTI), also known as fibromatosis colli or muscular torticollis, is the most common cause of congenital torticollis. It is present in approximately 0.4% of live births, and usually 90% of patients will have a good prognosis if therapy is initiated and continued for the appropriate period of time. This paper presents two cases of SCMTI and explains the diagnostic modalities and treatment options for this entity. SCMTI should be diagnosed early in the infant's life, since early detection and initiation of conservative treatment leads to resolution of the disease in the majority of patients.     

Bilateral sternocleidomastoid tumor of infancy

The sternocleidomastoid tumor of infancy (STOI), also known as fibromatosis colli, presents as a firm well circumscribed mass within the sternocleidomastoid muscle (SCM) in infants of 1-8 weeks of age. Some of these lesions are associated with torticollis, facial and cranial asymmetry. Incidence of STOI is approximately 0.4% of live births and usually 90% of the patients will have a good prognosis if therapy is initiated and continued for the appropriate period of time. This paper presents two cases of bilateral involvement of STOI, which is very rare. The bilateral nature of the masses added to the uncertainty of the clinical diagnosis and the unusual features of these cases are discussed.     

Bilateral sternocleidomastoid tumors of infancy

The sternocleidomastoid tumor of infancy (STOI) is a relatively uncommon condition. Typically, it presents as a firm, well circumscribed mass within the sternocleidomastoid muscle (SCM) in infants 1-8 weeks of age and may be associated with torticollis. This condition must be considered in any infant with a lateral neck mass. The diagnosis can often be made clinically, but unusual presentations may present diagnostic challenges. Although bilateral involvement is rare, it does occur. The second reported case, a 2-week old female with bilateral STOIs and torticollis, is reported. Although many of the characteristics of the masses suggested the condition, the bilateral nature added uncertainty to the clinical impression, and magnetic resonance imaging (MRI) was used to confirm the diagnosis. The clinical presentation and management of the STOI are reviewed, and the unusual features of this case are discussed.     

The sternocleidomastoid tumor of infancy

The sternocleidomastoid tumor of infancy is an uncommon clinical entity which has received little attention in the otolaryngological literature. The diagnosis must be considered in any infant presenting with a lateral neck mass. Although its natural history favors spontaneous regression, the mass may initially grow in size. The purpose of treatment is the prevention of torticollis and craniofacial asymmetry. The initial treatment is non-surgical, passive and active exercises. Only when this treatment fails should surgery be performed. The disappearance of the lesion is not always a predictable sign. A small number of children will develop delayed torticollis or craniofacial asymmetry. It is important that parents be informed of this possibility and of the necessity for long term follow-up.     

Inflammatory torticollis in children

Acute torticollis is commonly seen in the pediatric emergency department. It often results from an inflammatory process that irritates the cervical muscles, nerves, or vertebrae. Posturing of the head occurs with unilateral spasm of the sternocleidomastoid muscle such that the child will position the head with the occiput rotated to the affected side and the chin rotated to the contralateral side. We recently treated 26 children who presented to the emergency department with acute nontraumatic torticollis. The most common causes were upper respiratory infection, sinusitis, otomastoiditis, cervical adenitis, and retropharyngeal abscess or cellulitis. Four patients had subluxation of the atlantoaxial joint as a result of the inflammatory process. Children with acute torticollis need careful evaluation for either overt or occult otolaryngologic infections. Computed tomography and magnetic resonance imaging are helpful in determining the cause of the acute torticollis and in ruling out rotatory subluxation of the atlantoaxial joint.     

Congenital torticollis: Evaluation by fine-needle aspiration biopsy

Fine-needle aspiration biopsy, used extensively for evaluating head and neck masses in adults, also provides an excellent minimally invasive means of evaluating infants with neck masses and torticollis. Three cases of torticollis involving infants are presented. In each case, fine-needle aspiration revealed a benign fibrous lesion, ruling out malignancy. The remaining cytologic differential diagnosis between infantile fibromatosis, fibromatosis colli, and calcifying aponeurotic fibrosis is discussed, with mention of the possible causes of and treatment for congenital torticollis. We conclude that fine-needle aspiration provides a fast and accurate diagnosis of neck masses in infants who have congenital torticollis, thereby avoiding surgical procedures in this very young age group.     

Severe congenital laryngeal hypoplasia in a 45-year-old man

Congenital laryngeal anomalies are rare. They usually present in infancy and early childhood. We present a case of severe congenital hypoplasia, with multiple anomalies of the laryngeal cartilages in a 45-year-old man.     

Torticollis acquired in late infancy due to a cerebellar gangliocytoma

Torticollis in infancy is a common disorder and is typically benign and self-limiting. However, in some instances it is the presentation of serious disease. A critical distinction is whether the condition is congenital or acquired. We present a case of acquired late infantile torticollis caused by a cerebellar gangliocytoma that underscores the importance of making this determination prior to initiating a treatment plan. A gangliocytoma presenting with torticollis has not been previously described.     

Bilateral congenital macrostomia

INTRODUCTION: Congenital macrostomia, a transverse facial cleft, is a rare deformity of the mouth, which can occur alone or in association with other deformities. We report a case of congenital bilateral macrostomia. We discuss the difficulties of plastic surgery in this pathology. OBSERVATION: Congenital macrostomia in a one-year-old girl compromised feeding. The patient presented an isolated bilateral transverse facial cleft. Surgery associated a suture of the orbicularis oris muscle and a cutaneous W plasty. At twelve months, follow-up has been uneventful. DISCUSSION: Congenital macrostomia is most commonly associated with others anomalies. Many procedures are described regarding surgical correction of macrostomia. Reconstruction of the integrity of the oral sphincter associated with W plasty usually gives the best results.     

Focal myositis. A new cause for the pediatric neck mass

Focal myositis is an inflammatory pseudotumor of skeletal muscle that may involve the head and neck. It can closely mimic either a neoplastic or infectious process. We present the case of a 7-year-old boy with a 2-week history of a painful, unilateral neck swelling, fever, and torticollis. He failed to respond to antibiotic therapy and required an open neck exploration. An incisional biopsy of the indurated, inflammatory tissue adherent to his sternocleidomastoid muscle showed focal myositis. Focal myositis is an unusual, but important possibility in the differential diagnosis of any neck mass and especially one in a child. Although its cause is unknown, it is a self-limited disease and neither excisional biopsy nor radical resection is justified.     

Rehabilitation of the shoulder after radical neck dissection.

After classical radical neck dissection with removal of the sternocleidomastoid muscle and division of the spinal accessory nerve, there are certain disabling or disagreeable musculoskeletal defects. This paper describes the muscular deficiencies and gives a set of exercises which can be counted on to minimize the problems.     

Congenital familial subglottic stenosis: A case series and review of literature

Subglottic stenosis is a narrowing of the endolarynx and maybe classified as congenital (primary) or acquired (secondary). Congenital stenosis maybe caused by a small cricoid cartilage, thick submucosa or other laryngeal abnormalities and remains a well-known cause of stridor in infancy. It occurs sporadically and familial occurrence is rare. Our case series identifies three children with congenital subglottic stenosis born to consanguineous parents. Congenital subglottic stenosis in siblings of unrelated parents has been previously reported, but not in consanguineous parents indicating a strong genetic link. We recommend further genetic research to assess the mode of possible heritage in this disease.     

Pseudotumor of Infancy and Congenital Muscular Torticollis: 170 Cases

Objectives To review pseudotumor of infancy (POI) and congenital muscular torticollis (CMT) and to suggest an algorithm for treatment. Study Design Retrospective review of cases from 1962 to 1998 at a tertiary care center. Methods Patients included in this study were 81 boys and 89 girls who had a diagnosis of POI (n = 38) or CMT (n = 132) before 24 months of age. Results For all patients, the mean age at diagnosis was 4 months; 54.1% had the left side of the neck affected, over 90% had a head tilt, and 2.4% had feeding difficulty as a result of the disorder. Plagiocephaly was present in 39.5% of patients with POI and 63.6% of patients with CMT; a neck mass, in 63.2% and 18.2%, respectively; and facial asymmetry, in 7.9% and 15.9%, respectively. All patients had a complete physical examination; 54.1% had plain cervical radiography, 4.1%, computed tomography, and 2.9%, ultrasonography. Passive range of motion was the initial treatment recommended for 65.3% of patients. Conservative treatment failed for 16 patients; subsequently, they had surgical treatment. Follow‐up data were available for 159 patients; 85.5% experienced total resolution and 14.5% experienced subtotal resolution or long‐term abnormality. Conclusions Children diagnosed with POI or CMT should be treated and observed for at least 12 months or until symptoms resolve. If symptoms persist 1 year after diagnosis despite conservative therapy, surgical treatment should be considered. The majority of children with POI or CMT experience total resolution of symptoms.     

Bilateral congenital lacrimal fistulae: a case report and review of the literature

The lacrimal system is comprised of the lacrimal glands for tear production and the lacrimal drainage system for draining tears away from the eyes. Congenital lacrimal system anomalies other than nasolacrimal duct obstruction are uncommon. Congenital lacrimal fistulae are a rare developmental anomaly, and when they occur, they are usually unilateral. Fistulae and diverticulae can originate from the canaliculus, lacrimal sac, or nasolacrimal duct. They can be seen externally as small orifices or pits located inferior and/or medial to the medial canthi. These anomalies are often asymptomatic and may go undetected. However, they can also present with epiphora or discharge. We report the case of a 4-year-old male with bilateral congenital lacrimal fistulae. The patient presented to our clinic after his parents discovered bilateral pits located inferior and medial to the medial canthi. The pits had first been noticed only a few weeks prior to presentation. There was no history of drainage or infection. The diagnosis of bilateral congenital lacrimal fistulae was confirmed with computed tomographic imaging. No other systemic, nasal, or ocular anomalies were found. The patient was referred to pediatric ophthalmology and because the lacrimal fistulae have been asymptomatic to this point, it was decided to proceed with a course of observation. We will discuss the embryologic basis for congenital lacrimal fistulae, as well as the typical presentation and possible treatment modalities. The presence of lacrimal fistulae is an indicator to search for a variety of underlying systemic and ocular anomalies.     

Kongenitaler Schiefhals mit Kehlkopf-Trachea-Verlagerung durch Kontraktur des Musculus omohyoideus

Summary Report on a boy with congenital torticollis by contracture of one omohyoid muscle with lateral displacement of the larynx and trachea, marked asymmetry of the face. Since surgery this asymmetry has nearly totally regressed, and the larynx is in median position.

     

Isolated tracheo-oesophageal fistula in neonates

INTRODUCTION: Congenital isolated tracheo-oesophageal fistulae without oesophageal atresia account for about 4% of tracheo-oesophageal malformations. An Otolaryngologist, even with a paediatric practice, is unlikely to treat a lot of cases during his career. We report 3 cases and discuss the investigations and management of the fistulae. PATIENTS AND METHODS: Three neonates with an isolated congenital tracheo-oesophageal fistula were treated between 1997 and 2002. We describe their presentation, investigation and treatment. We present radiology, endoscopic and surgical images for one case. RESULTS: The mean age at diagnosis of congenital isolated fistula was 6.7 days. In retrospect, the symptoms were usually present from birth. A barium swallow had demonstrated the tracheo-oesophageal fistula in 2 infants. In all three cases the fistula was clearly visualized by tracheoscopy. The most distal fistula was 25 millimetres below the true vocal cords. The closure of the fistula was made by cervicotomy in all cases. Our results are discussed with regards to the literature. CONCLUSION: Congenital tracheo-oesophageal fistulae are rare malformations. Diagnostic delay is common. Tracheo-oesophageal endoscopy is the investigation of choice. Good results are obtained with surgery treatment via a cervical approach. The management of such fistulae requires medical teams familiar with neonatal endoscopy and cervical surgery.     

Agenesis of the epiglottis and false vocal folds with maxillary hypoplasia in an adult

Hypoplasia or absence of the epiglottis in an adult is a rarely reported congenital anomaly that usually occurs in association with congenital anomalies of other organ systems. Most epiglottic anomalies usually present in infancy and early childhood with respiratory and feeding problems and the affected individual dies shortly after birth due to multiple congenital anomalies. We present a case of congenital absence of the epiglottis and false vocal folds with hypoplastic maxillae in an adult.     

A unique presentation of a pharyngeal auricle

Congenital lesions typically present in early childhood. Based on their location and presentation, the diagnosis and treatment is usually obvious. Because of the complexities and uniqueness of head and neck embryology, rare congenital lesions develop and this should be of interest to the otolaryngologist. In this report we present a rare case of a pharyngeal auricle that manifested itself as a polyp within the oropharynx of an infant.     

Congenital malformations of the eye and orbit

Congenital malformations may affect any part of the eye and the ocular adnexa. Developmental defects may occur in isolation or as part of a larger systemic malformation syndrome. Many malformations can severely impair vision, whereas others have only cosmetic significance, and still others cause no symptoms and may go undiscovered or may be noted incidentally on routine eye examination. Congenital anomalies have numerous causes, most commonly of developmental genetic origin. The genetic basis of congenital eye and orbit anomalies is just beginning to be delineated, and future research on the subject will undoubtedly broaden understanding of the developmental etiology, pathophysiology, and treatment of congenital ocular disorders.