[A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)]. / Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS).

The rare clinical picture of nasal agenesis is to be presented on the basis of a female newborn. Intrauterine growth restriction with polyhydramnios and midface hypoplasia were noted during pregnancy. Primary cesarean section at 38 + 4 weeks' gestation was done. Airway management was achieved by splinting through a Mayo tube which was subsequently replaced by a pharyngeal endotracheal tube without signs of respiratory failure. In addition to a complete nasal agenesis, hypertelorism, a Gothic palate, bilateral microphthalmus, and iris coloboma were found. Ultrasound scans of cerebral structures were normal. An orogastric tube was placed, and drinking training and a special pacifier improved coordination and drinking performance. We suspected a case of Bosma arhinia microphthalmia syndrome (BAMS). The structural maintenance of chromosomes flexible hinge domain (SMCHD) containing 1 gene plays a key role in the embryogenesis of the human nose and is known for mutations in BAMS. A heterozygous de novo mutation in the SMCHD1 gene (c.1043A > G; pHis348Arg) was confirmed by molecular genetic analysis. Initial stabilization after birth is often a challenge in patients with nasal agenesis. They are often intubated immediately postpartum and electively tracheotomized. In the absence of respiratory problems and appropriate growth, however, there is no urgent indication for early plastic surgical treatment, given the inherent risks of sepsis and growth disorders in the midface.

[Periocular Necrobiotic Xanthogranuloma with Mono- and Biclonal Gammopathy]. / Periokuläres nekrobiotisches Xanthogranulom bei mono- und biklonaler Gammopathie.

Necrobiotic xanthogranuloma is a very rare disease with granulomatous lesions of the skin with possible association with paraproteinemia. We report two cases of orbital necrobiotic xanthogranuloma in patients with mono/biclonal gammopathy of undetermined significance. Both patients underwent successful conservative treatment.

[Primary Orbital Liposarcoma]. / Primäres Liposarkom der Orbita.

A 30-year-old male patient presented with a painful globe subluxation of the left eye since two weeks. Painless left proptosis had been noted at least 2 years earlier. An MRI performed one year after onset of symptoms showed a retrobulbar mass, which on biopsy was diagnosed as spindle cell lipoma. Surgical debulking via a transconjunctival approach successfully reduced proptosis; repeated histology with extensive immunohistochemical analysis now led to the diagnosis of a well-differentiated orbital liposarcoma. The patient underwent orbital exenteration and received adjuvant radiotherapy. Genetic testing showed a heterozygote mutation of the ATM-gene on chromosome 11.

PFO and right-to-left shunting in patients with obstructive sleep apnea.

BACKGROUND: Patent foramen ovale (PFO) with right-to-left shunt has a prevalence of 10% to 34% in the general population. It can cause an ischemic stroke, transient ischemic attack, and paradoxical peripheral or coronary embolization. Its influence on migraine and several other diseases and conditions is currently under debate. Attention has recently been turned to the correlation between PFO and obstructive sleep apnea. Thus far, studies on the prevalence of right-to-left shunts as a surrogate for PFO in these patients were limited by small sample sizes and the results have been conflicting. Here, we evaluate the prevalence of right-to-left shunting (RLS) through transcranial Doppler ultrasound (TCD) in a large patient group with obstructive sleep apnea (OSA). METHODS: One hundred consecutive patients (mean age 59.5 y) with OSA underwent TCD with intravenous injection of agitated saline. The grading of right-to-left-shunts was in accordance with the Spencer PFO Grading Scale. RESULTS: RLS was detected in 72 of 100 patients (72%). Thirty-four out of these 72 patients (47%) had a shunt grade I or II; 15 (21%) had a shunt Grade III or IV; and 23 (32%) had a large shunt (Grade V or V+). In 47 of 72 patients (65%), a right-to-left shunt was detectable at rest without Valsalva maneuver. CONCLUSION: The prevalence of a RLS in patients with OSA is high. Provided other intracardiac or pulmonary shunts were absent, the high prevalence of a RLS suggests a high prevalence of PFO in patients with OSA.