Oculo-ectodermal syndrome: A case report and further delineation of the syndrome.

Oculo-ectodermal syndrome (OES - OMIM 600628), also known as Toriello Lacassie Droste syndrome, is a very rare condition, first described by Toriello et al., in 1993. OES has been proposed to be a mild variant of encephalocraniocutaneous lipomatosis (ECCL). It is characterized by aplasia cutis congenita (ACC), epibulbar dermoids, coarctation of the aorta, arachnoid cysts in the brain, seizure disorder, hyperpigmented nevi, non-ossifying fibromas and a predisposition to develop giant cell tumors of the jaw. There are few reported cases of OES worldwide but with no definite diagnostic criteria yet. We present a case in a child with unilateral hyperpigmented nevi and ACC on the scalp, ocular lesions (lipodermoid cysts and coloboma), temporal arachnoid cyst, spinal lipomatosis and aortic coarctation with the aim of enhancing the foundation to establish diagnostic criteria for this condition. It additionally serves as a teaching point to emphasize the importance of pursuing a definite diagnosis when faced with such a multisystem illness, to counsel patients and their parents regarding long term morbidity and overall prognosis.

Validation of finger blood pressure monitoring in children.

BACKGROUND: Continuous beat-to-beat blood pressure monitoring permits the rapid detection of blood pressure fluctuations for cardiovascular reflex testing and clinical haemodynamic monitoring. In adults, this can be achieved noninvasively with high accuracy, using finger blood pressure monitoring with volume clamp photoplethysmography. However, data are lacking on the validity of finger blood pressure monitoring in children compared to the gold standard - invasive intra-arterial blood pressure monitoring. AIM: We aimed to evaluate the accuracy of novel noninvasive index and middle finger arterial pressure (FinAP) measurements in children. METHODS: Using prototype paediatric finger cuffs, we compared: mean differences, bias and limits of agreement (Bland-Altman analyses); cumulative percentage differences [clinical grade A-D (based on the percentage of heartbeats in agreement with the standard)]; and waveform morphology (regression analysis and smoothing) between both raw FinAP (Finapres NOVA) and reconstructed finger-brachial arterial pressure (reBAP) compared to intra-arterial blood pressure measurements. RESULTS: Eighteen children were tested (aged 3-13 years; 12 male), with data from 13 included in the analysis. The bias for reBAP for the middle finger was 1.8±6.9, 0.3±6.1 and 0.4±5.3 mmHg for systolic, diastolic and mean arterial pressure, with clinical grades of C, B and A, respectively. reBAP improved numerical accuracy, but reduced waveform morphological agreement. CONCLUSION: Middle finger arterial measurements with waveform reconstruction provide an acceptable surrogate for invasive intra-arterial recording in children. Finger blood pressure monitoring is a novel comfortable, convenient and accurate alternative approach for noninvasive beat-to-beat blood pressure monitoring in children.