Sellar Spine Associated with Endocrine and Neuro-Ophthalmological Manifestations

A case of sellar spine, associated with neuro-ophthalmological and endocrine abnormalities, is reported. The case described is a rare malformation, of which the authors found only six cases in the literature.

Hand Involvement in Ollier Disease and Maffucci Syndrome: a Case Series

Ollier Disease and Maffucci Syndrome are two rare diseases that can cause tumors in several organs, having a special predilection for the hand. However, there have been very few reports in the literature focusing on hand manifestations of these diseases. We report the cases of three female patients: one with Ollier Disease, and two other with Maffucci Syndrome. All patients had hand involvement as their initial primary complaint. The Ollier Disease patient developed chondrosarcomas of two digits and had to have these fingers amputated. One of the Maffucci patients died one year after presentation from a brain glioblastoma. These cases emphasize the importance of early diagnosis of Ollier Disease and Maffucci Syndrome, as these two conditions are associated not only to crippling hand deformity, but also to a significant risk of chondrosarcoma, and other malignant tumors.

Temporomandibular Joint Ankylosis in an Infant: A Rare Cause of Difficult Airway

1.Pre-assessment data of the patient A 2-year-old boy, weighing 15 kg was admitted with a history of limited mouth opening(inter-incisor distance of 6 mm), hypoplastic and retrognathic mandible (bird face deformity) and facial asymmetry from left temporomandibular joint ankylosis (TMJA). He was born at term, after an uneventful pregnancy, and there was no report of trauma during caesarean section. No other possible aetiologies were identified. He was scheduled for mandibular osteotomy. Preoperative ENT examination revealed adenotonsillar hypertrophy. 2. Anaesthetic Plan A fiberoptic nasal intubation was performed under deep inhalation anaesthesia with sevoflurane, with the patient breathing spontaneously. Midazolam (0.05 mg.kg-1) and alfentanil (0.03 mg.kg-1) were given and anaesthesia was maintained with O2/air and sevoflurane. No neuromuscular blocking agent was administered since the surgical team needed facial nerve monitoring. 3. Description of incident During surgery an accidental extubation occurred and an attempt was made to reintubate the trachea by direct laryngoscopy. Although the osteotomy was nearly completed, the vocal cords could not be visualized (Cormack-Lehane grade IV laryngoscopic view). 4. Solving the problem Re-intubation was finally accomplished with the flexible fiberscope and the procedure was concluded without any more incidents. Extubation was performed 24 hours postoperatively with the patient fully awake. After surgery mouth opening improved to inter-incisor gap of 15 mm. 5. Lessons learned and take home message Two airways issues present in this case can lead to difficultventilation and intubation: TMJA and adenotonsillar hypertrophy. These difficulties were anticipated and managed accordingly. The accidental extubation brought to our attention the fact that, even after surgical correction, this airway remains challenging. Even with intensive jaw stretchingexercises there is a high incidence of re-ankylosis, especially in younger patients. One should bear that in mind when anaesthetizing patients with TMJA.

A Ponta do Iceberg: Manifestações Cutâneas de Patologia Pediátrica com Envolvimento Neurológico

Introdução: Algumas alterações cutâneas podem ser as primeiras manifestações clínicas de diversas entidades nosológicas com atingimento sistémico. O presente trabalho tem como objectivo rever a semiologia dermatológica relevante no contexto das doenças com envolvimento neurológico na infância. Material e Métodos: Revisão dos artigos indexados à MedLine publicados nos últimos 12 anos e com relevância para o tema. Resultados: Os principais grupos nosológicos relevantes para o tema compreendem as genodermatoses (com destaque para as síndromes neurocutâneas), as alterações da pigmentação, as doenças vasculares, as endócrinas, os défices enzimáticos congénitos e os disrafismos espinhais ocultos. Discussão: O reconhecimento da semiologia cutânea específica é importante pois pode permitir um diagnóstico muito mais precoce.