To report a case of floppy eyelid associated with Down's syndrome in a 2-year-old child.A 2-year-old child associated with Down's syndrome presented with a history of eversion of both upper lids during sleep and while crying since birth. There was no history of sleep apnea and no mechanical stimuli over eyelids. Examination under anesthesia revealed gross laxity with thick and rubbery tarsi in both the upper and lower lids. Vascularized corneal scar was present in both eyes. The laxity in the upper eyelids was corrected by pentagonal wedge resection and in the lower lids by lateral tarsal sling. No recurrence was observed up to 6-month follow-up.Although floppy eyelid is more common in middle-aged obese patients, it should be carefully looked for children particularly while dealing with Down's syndrome.

Free nonvascularized toe phalangeal transfer is an established surgical option for the reconstruction of hypoplastic digits. This study assessed long-term morbidity in the feet using this technique.We reviewed 40 children treated between 1991 and 2007 by free nonvascularized toe phalangeal transfer. The diagnosis was digital hypoplasia resulting from symbrachydactyly in 33 cases, constriction ring syndrome in 3 cases, thumb hypoplasia in 3 cases, and perinatal subclavian venous thrombosis in 1 case. The patients were followed up after surgery for a mean of 10 years (range, 3-19 y). The Oxford Ankle Foot Questionnaire was administered to patients and families to assess patient symptoms and patient and parental satisfaction. We assessed toe length ratio, the presence of visible deformity, and distal hypoplasia of the donor toes clinically and radiographically.Emotional problems related to foot appearance were common. We also found functional problems with footwear in some patients. All patients had floppy unstable toes with visible deformity. Increasing foot deformity was seen with growth, which led to deterioration in foot aesthetics, particularly where multiple donor toes had been harvested. We identified distal and middle phalangeal and metatarsal hypoplasia in the donor toes.Donor site morbidity for free toe phalangeal transfer is greater than previously documented. This should be considered during surgical decision making for reconstruction of hypoplastic digits. Preoperative counseling should include discussion regarding possible consequences of phalangeal harvest on donor toes and options for donor site reconstruction. Long-term follow-up of the donor site is essential to accurately assess results.Therapeutic III.

To present prenatal ultrasound and perinatal magnetic resonance imaging (MRI) findings of Galloway-Mowat syndrome.A 31-year-old woman, gravida 3, para 2, was referred for genetic counseling at 29 weeks of gestation because of abnormal ultrasound findings and a previous child with Galloway-Mowat syndrome. During this pregnancy, microcephaly, intrauterine growth restriction (IUGR), and oligohydramnios were first noted at 27 weeks of gestation. Repeated ultrasounds showed microcephaly, IUGR, and oligohydramnios. MRI performed at 32 weeks of gestation showed reduced sulcation of the brain, pachygyria, poor myelination of the white matter, and cerebellar atrophy. A diagnosis of recurrent Galloway-Mowat syndrome was made. At 40 weeks of gestation, a 2,496-g female baby was delivered with microcephaly, a narrow slopping forehead, epicanthic folds, microphthalmos, a highly arched palate, a small midface, a beaked nose, thin lips, large low-set floppy ears, clenched hands, and arachnodactyly. Postnatal MRI findings were consistent with the prenatal diagnosis. Renal ultrasound showed enlarged bilateral kidneys with increased echogenicity. At the age of 2 weeks, the infant became edematous and developed nephrotic syndrome.Microcephaly, IUGR, and oligohydramnios are significant ultrasound triad of fetal Galloway-Mowat syndrome. Prenatal ultrasound diagnosis of microcephaly, IUGR, and oligohydramnios in late second trimester or in early third trimester should alert clinicians to the possibility of Galloway-Mowat syndrome and prompt a detailed search of abnormal sulcation, cortical gyral maldevelopment, and cerebellar atrophy by fetal ultrafast MRI.

Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. A 3-month-old male infant had visited our pediatric clinic for lethargy, floppy muscle tone, poor oral intake and partial seizures. His hair was kinky, brown colored and fragile. Partial seizures became more frequent, generalized and intractable to antiseizure medications. An EEG showed frequent posteriorly dominant generalized spikes that were consistent with a generalized seizure. From a genetic analysis, a c.2743C>T (p.Gln915X) mutation was detected and diagnosed as Menkes disease. The mutation is a novel one that has not been previously reported as a cause of Menkes disease.

Intraoperative floppy iris syndrome (IFIS) occurring during cataract surgery in adults has been widely reported in association with tamsulosin and other α-1(a) adrenergic antagonists; however, only one case of pediatric IFIS has been previously reported and was associated with congenital cataract. We report a case of a 1-month old girl with IFIS associated with bilateral persistent pupillary membranes without cataracts and the use of preoperative topical phenylephrine and pilocarpine for IFIS prophylaxis.

Children with Down syndrome (DS) are at greater risk of pulmonary arterial hypertension (PAH) than the general population, partly due to upper airway obstruction and congenital heart disease. We wished to review our management of PAH and suggest a protocol for the systematic management of these children. Children with DS and PAH were included as referred for assessment from March 2005 to May 2010. Twenty-five patients (13 boys) met inclusion criteria. The median age was 385 days (range, 106 to 5,734); mean tricuspid regurgitation jet was 3.5 (range, 2.7-4.8) m/s. At cardiac catheterisation, mean pulmonary artery mean pressure was 26 mmHg (range, 12 to 46), and mean pulmonary vascular resistance (PVR) was 4.14 U.m² (range, 1.20 to 12.43) at baseline. PVR fell to a mean of 2.68 U.m² (range, 0.38 to 10.69) with 20 ppm inhaled nitric oxide and 100% oxygen. Respiratory assessment included polysomnography (18), bronchoscopy (16), showing malacia (eight), adenotonsillar hypertrophy (eight) and floppy aryepiglottic folds (four). One lung biopsy showed plexogenic arteriopathy, and one was diagnosed with tracheo-oesophageal fistula.

CONCLUSION:

In order to manage this complex group of patients, a combined cardiological, respiratory and surgical approach was required. A protocol with cardiac catheterisation, blood tests and respiratory assessment is suggested for the management of pulmonary hypertension in these children.

To better define the wide spectrum of lax eyelid conditions, especially the subtype referred to as floppy eyelid syndrome, and to clarify its relationship with associated ophthalmic findings.A case-based retrospective review of all patients seen at UNC Department of Ophthalmology with a diagnosis of floppy eyelid syndrome or lax upper eyelid was performed. The period of review was from March 2002 to March 2007. A literature review was also performed using the term "floppy eyelid syndrome" and "lax eyelid syndrome" as the keywords in a PubMed search. Charts and cases were reviewed for the following information: age, sex, presence or absence of obesity, presence or absence of upper eyelid laxity, presence or absence of lower eyelid laxity, symmetry or asymmetry of eyelid laxity, sleeping position preference, diagnosis of obstructive sleep apnea (OSA), history of eye rubbing, diagnosis of keratoconus (KCN), lash ptosis, history of spontaneous eyelid eversion, papillary conjunctivitis, systemic hyperlaxity, diagnosis of meibomianitis, signs of anterior segment inflammation, and smoking or excessive sun exposure history.From our UNC case review, 14 patients involving 17 eyelids were identified. From the literature review, 72 articles were recovered and evaluated to yield a total of 324 reported cases through February 2007. From the combined data (n = 338), the overall minimum prevalence of sleep apnea in patients with lax eyelid condition was 16% compared with an estimated 9% to 24% in the general population. Of patients with lax eyelid syndrome, those identified with OSA had significantly more individuals with obesity (76% vs. 20%) and male gender (89% vs. 61%) than the group without OSA. The prevalence of KCN in patients with lax eyelid syndrome was a minimum of 6.8%, which is considerably higher than the estimated prevalence in the general population of 0.6%. However, KCN appears to show a significant association with the patient's side of sleeping preference.Eyelid laxity can result from a number of involutional, local, and systemic diseases but is frequently of unknown etiology. When it is consistently associated with papillary conjunctivitis and dry eyes it can be referred to as lax eyelid syndrome (LES). A number of specific subsets of LES can be identified. One such subset, occurring primarily though not exclusively in males and associated with obesity, has been defined as the floppy eyelid syndrome (FES). OSA has been associated with FES where it occurs with greater frequency than in the general population, but no greater than seen in obese males without FES, and therefore appears to represent an epiphonomenom only. However, given the demographics of FES, this condition offers some predictive value for OSA and should alert the physician to evaluate the sleep habits of all such patients. Keratoconus also shows some association with FES and with LES. However, data suggest that the causative factors are sleep preference for the involved side and nocturnal eyelid eversion, rather than any underlying physiologic or anatomic relationship.

BACKGROUND:

The use of benzodiazepine anxiolytics and hypnotics continues to excite controversy. Views differ from expert to expert and from country to country as to the extent of the problem, or even whether long-term benzodiazepine use actually constitutes a problem. Although as a class benzodiazepines act rapidly and are well tolerated, their use presents clinical issues such as dependence, rebound anxiety, memory impairment, and discontinuation syndrome. The aim of this article is to review literature regarding different side effects associated with treatment with benzodiazepines - effects on cognition, treatment with benzodiazepines during pregnancy, dependence on benzodiazepines and risk of falling. CONTENT ANALYSIS OF LITERATURE: Literature research included structured searches of Medline and other publications on the subject of treatment with benzodiazepines, particularly effects on cognition, risk of falls, benzodiazepine dependence and treatment with benzodiazepines during pregnancy.

CONCLUSION:

Results of investigations have revealed different side effects associated with treatment with benzodiazepines. Previous investigations showed that treatment with benzodiazepines may induce anterograde amnesia. Also, previous studies confirmed occurrence of physical dependence in high percentage of patients in long term treatment with benzodiazepines at therapeutic dosages. Some investigation suggested higher risk of oral cleft, the floppy infant syndrome, or marked neonatal withdrawal symptoms when using benzodiazepines during pregnany. Investigations have shown increased risk of falling in elderly persons taking benzodiazepines.

Acute limb compartment syndrome or Volkmann's ischaemic contracture is an acquired ischaemia of nerve and muscle causes by raised pressure within a closed fascial space. Congenital Volkmann's ischaemic contracture (CVIC) is a rare entity.A 2-day-old girl was referred with a problem of the left forearm and arm, which exhibited cold oedema with decreased mobility. Lesions were present at birth and were rapidly complicated by skin necrosis. The mother was taking olazanpine, prazepam and valpromide throughout the entire pregnancy. Delivery was complicated by shoulder dystocia requiring obstetric procedures such as suprapubic pressure, Couder's maneuver and episiotomy. On physical examination her left hemi-thorax, left arm, forearm and hand exhibited marked oedema. A large and well-demarcated bullous, fibrous and ulcerated area of skin necrosis was observed on the elbow fold and on the inner anterior part of the arm. Digital flexion with cyanosis was present. MR angiography revealed extensive oedema of the soft tissue and muscle with fascial effusion, associated with compression of the arm arteries and reduced blood flow in the forearm. A fasciotomy was performed at Day 3 of life. The postsurgical arterial MRI was normal. At Day 10 of life, the patient developed opisthotonos involving spasms and tremors associated with numerous intercritical abnormalities evoking benzodiazepine weaning syndrome. The child's neurological status was stabilized by treatment with phenobarbital and clonazepam. She was subsequently lost to follow-up.CVIC has been ascribed to multiples causes. Mechanical compression is the main recognized factor: amniotic band constriction, umbilical cord loops, compression in utero by a deceased co-twin, malposition of the hand, arm or forearm, local or general factors that can add to extraction problems: brachypelvic disproportion, extraction with forceps, oligo/polyhydramnios, pre-term delivery, pre-eclampsia, caesarean section, premature labour, excessive maternal weight gain or diabetes. Our case emphasized three main points. First, the diagnostic value of early MR angiography in the event of associated extensive tissue oedema, multiple arterial compression and decreased vascular perfusion. Second, the role of shoulder dystocia in triggering the traumatic factor reported for the first time. Third, the role of neuroleptic and anxiolytic treatments taken by the mother during pregnancy. Prazepam is a long-acting benzodiazepine that can cause impregnation and withdraw syndromes in neonates. Impregnation "floppy infant syndrome" is an early event characterized by hypotonia, hypoventilation and lethargy. Hypotonia and decreased foetal movements may favour prolonged pressures and malposition with secondary crush injury during delivery. Maternal medication has not been cited hitherto as an aetiological factor in neonatal compartment syndrome.