Congenital Dislocation of the Knee: Idiopathic or Arthrogryposis?

Fetal akinesia associated with fixed joints is a common cause for suspicion of arthrogryposis multiplex congenita, a severe condition with heterogeneous etiology. We present the case of a rarer but more benign condition, congenital knee dislocation. The authors report the case of a 27-year-old woman medicated with levetiracetam for epilepsy whose prenatal ultrasound at 22 weeks of gestational age revealed bilateral clubfoot, permanent extension of the inferior limbs with internal knee rotation, normal amniotic fluid quantity, and fetal echocardiography. The remaining ultrasounds revealed similar results. Prenatal genetic testing revealed no pathological findings. The pregnancy was otherwise uneventful. A female newborn was delivered at 39 weeks by cesarean section, with no need for resuscitation. She presented with bilateral knee hyperextension and clubfoot, spontaneous movements, and normal mobility in all other joints. The remaining physical examination and brain and hip ultrasound on the second day of life were normal. These findings were compatible with idiopathic congenital dislocation of the knee (CDK). The patient was undergoing treatment with favorable evolution and adequate neurodevelopment, at the time of this report.  This case describes a diagnostic workup with the exclusion of severe syndromic pathologies, namely arthrogryposis. Despite the initial suspicion of arthrogryposis, a condition with a poor prognosis, this infant presented a more benign disease with favorable evolution.

Upper Airway Obstruction in a Newborn: A Rare Cause of Respiratory Distress.

Newborns are considered obligate nasal breathers until the eighth week of life. Therefore, upper nasal obstruction in a newborn can present as a potentially life-threatening complication. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare form of upper airway obstruction caused by a narrowing without occlusion in the most anterior opening of the bony nasal airways. According to the severity of this stenosis, early onset of respiratory symptoms can arise in the newborn. In this article, we present the case of a male term newborn with no prior relevant family history and uneventful gestation delivered in a eutocic manner with an adequate transition to the extra-uterine environment. On his first day of life, progressive respiratory distress, inability to breastfeed, and impossibility to make nasogastric probe progress through both sides of the nose were observed, leading the newborn to be admitted to a neonatal intensive care unit. During imagiological assessment with perinasal computerized tomography (CT) scan, an almost total occlusion of the pyriform aperture and a solitary median maxillary central incisor (SMMCI) were identified. Additional evaluation with brain magnetic nuclear resonance imaging (MRI) was unremarkable with no midline defects identified. Endocrine laboratory assessment was also normal. The newborn underwent pyriform aperture permeabilization surgery via a sublabial approach with bilateral nasal stent introduction, enabling total resolution of the initial respiratory symptoms. No incurrences were reported during the post-operatory follow-up period. With the present case report, the authors are trying to raise awareness for CNPAS not only as a rare cause of respiratory distress in the newborn but also as a clinical entity that can be associated with midline defects, which require further additional investigation and intervention.

Early Presentation of an Ulcerated Infantile Haemangioma in a Newborn.

Infantile haemangiomas (IHs) are the most common benign soft tissue tumours in children. Usually, they evolve without clinical incurrences and regression of the lesion can occur spontaneously in the first years of life. The decision for treatment is dependent upon the intrinsic characteristics of the lesion such as location, extension, functional compromise and complications. We present the case of a newborn who was clinically accessed during ambulatory routine consultation when a lesion with 5x5 centimetres compatible with an IH was first observed. Inflammatory signs with no active bleeding were present and the newborn displayed signs of discomfort during a diaper change and manipulation of the anogenital area. For this reason, a referral was made for observation in a central hospital with specialised paediatrics, paediatric surgery and dermatology support. A 10-day antibiotic course with flucloxacillin and local topical care with silver sulfadiazine cream and barrier cream with zinc oxide were adopted, achieving a good clinical outcome. Laboratory workup, cardiovascular assessment, imagiological investigation with abdominopelvic and spinal cord ultrasonography as well as lumbosacral magnetic resonance imaging were all normal. Ulceration is the most prevalent complication of IHs and it is associated with pain, recurrent bleeding, infection and difficult scarring, thus early recognition and directed treatment are essential to achieve a good clinical outcome.