Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5% of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocation t(1;22). We compared the clinical and cytogenetic data of our patient with those of another case presenting a pure 22qter monosomy and with those of all 1qter trisomy cases reported in the international literature. To the best of our knowledge, the subterminal 1q trisomy found in the present case has been reported in only 12 patients to date (including five familial cases). This report aims to contribute to our understanding of 1q44-qter trisomy.
Purpose To study long‐term outcome of SBS on visual and cognitive functions. Methods Case series of 10 children (7 M, 3 F) with confirmed SBS has been examined and followed‐up. All chldren underwent a fundus evaluation by indirect ophtalmoscopy and wide‐field digital ophtalmic camera (RetCam II) in the acute phase and until retinal hemorrhage resorption. The assessment was repeated at follow‐up combined with ocular motility evaluation, visual field (BEFIE test), visual acuity by preferential looking tecnique (teller acuity cards), refractometry, cognitive‐behavioural evaluations (Griffiths scales, Child Behaviour Check List), and family stress measurement (Parenting Stress Index). Results Mean age at acute episode of SBS: 6 months (range 2‐20). Mean age at last follow‐up evaluation: 27.6 months (range 4.5‐41). At last follow‐up evaluation: 1 out of 6 had a decreased visual acuity (cortical visual impairment), 3 out of 6 had mild‐severe visual field deficits, 3 out of 6 has strabismus. None of the cases showed significant refractive errors. Due to age or severity of impairment and delay in global development, in any of the cases we were able to perform a recognition acuity test by symbols or E‐charts. Cognitive and behavioural assessment demonstrated global delay and impaiments in speech/language development and attention problems. Conclusion SBS is characterized by severe long‐term sequelae both in visual and cognitive function. Several visual impairments are observed, mainly related to cortial injury of visuo‐spatial area. Although follow‐up is difficult due to family history, there is strong indication for global assessment until scholar age where other impairments are demonstrated.
Purpose Shaken Baby Syndrome(SBS) presents with acute encephalopathy,subdural and retinal haemorrhages,with inconsistent history,in < 2 years old.Long‐term sequelae are still under study.Aim is to present the long‐term outcome in a case series of SBS followed‐up by a multidisciplinary team. Methods Case series of 14 children(9 M,5 F)with confirmed SBS has been examined and followed‐up.Patients underwent fundus evaluation (indirect ophtalmoscopy) and wide‐field digital ophthalmic camera (RetCam II) until bleeding reabsorption.Assessment was repeated at follow‐up combined with ocular motility evaluation, visual field(BEFIE test),visual acuity(Teller acuity cards),refractometry, cognitive‐behavioral evaluations (Griffiths scales,Child Behaviour Check List), and family stress measurement(Parenting Stress Index),segmentation analysis of MRI. Results Mean age at acute episode of SBS: 6.5 months (range 2‐20), 9/14 in the first 6 months of life. Mean age at last follow‐up evaluation: 32 months (range 8‐65). 4 cases were lost to follow‐up. At last follow‐up evaluation: 4 out of 10 had a decreased visual acuity (cortical visual impairment), 4 out of 10 had visual field deficits, 3 out of 10 had strabismus. None of the cases showed significant refractive errors. Cognitive/behavioural assessment demostrated global delay and impairments in neuromotor ability, speech/language development and attention problems. MRI analysis showed atrophic alterations in several brain areas. Conclusion Multidisciplinary assessment including ophthalmologic examination and neuro behavioural evaluation provides crucial prognostic information in cases of suspected SBS.Functional outcome is largely dependent on brain injury and atrophy.
AbstractsResults Fourteen infants received mechanical ventilation throughout cooling. The remaining 8 infants were on ventilator initially but got extubated and were not on ventilator during 32 to 72 hours section of WBC. Esophageal temperatures were significantly higher than simultaneous rectal temperatures (p≤0.01 at each time point) for all 22 infants. However, the esophageal temperatures across every 4 hour time points during 32 to 72 hours section of WBC did not differ between the ventilated (n-14), and non-ventilated (n-8) infants. The magnitude (median, IQR) of the difference between esophageal and rectal temperatures were also similar between the 2 groups.Abstract 1106 Figure 1 Comparison of E-R (in centigrade) between 2 groups Conclusions Warmed inhaled gas does not interfere with the esophageal temperature during WBC.
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