Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging.

Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder for which the diagnosis is often overlooked. The objective of this case report is to highlight how clinical features used in conjunction with brain MRI findings can lead to an expeditious diagnosis without the need for invasive measures or genetic test results. We present the case of a three-day-old infant delivered at 34 and 4/7 weeks gestation who presented with mild respiratory distress and bilious emesis in the setting of an uncomplicated gestational course and vaginal delivery with no known teratogen exposure. A diagnosis of Pallister-Hall syndrome was made on the basis of physical exam findings, hormonal abnormalities and the identification of a hypothalamic hamartoma on brain MRI. The patient underwent multiple procedures for diagnosis and management of PHS complications, including a diverting jejunostomy for a long-segment Hirschsprung's and a laryngoscopy which identified a bifid epiglottis. The patient tolerated the interventions and did not have seizures on admission. The MRI brain detection of a hypothalamic hamartoma led to an earlier diagnosis of Pallister-Hall syndrome and thus further screening and identification of complications associated with this disorder were performed before genetic analyses or brain biopsies were obtained. Given the unique MRI features of hypothalamic hamartomas, brain MRI can be a useful tool for making an early PHS diagnosis when taken with clinical features concerning possible PHS.

Management of Cavernous Sinus Thrombosis Following Herpes Zoster Ophthalmicus.

Herpes zoster opthalmicus (HZO) is the reactivation of latent varicella zoster virus (VZV) within the ophthalmic branch of the trigeminal ganglion (V1). Common complications are postherpetic neuralgia and vasculopathy. Here, we report a rare case of a 47-year-old female presenting with HZO and aseptic cavernous sinus thrombosis (CST). Early screening for rare and deadly complications such as CST using CT cerebral venography (CTV) and magnetic resonance venography (MRV), as was done, is crucial to detection at earlier stages when intervention is most effective. Anticoagulation therapy was promptly started, and the patient's symptoms continued to improve during the hospital stay.

Moyamoya Disease in a Young Female With Neurofibromatosis Type 1.

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of the terminal portions of the internal carotid arteries (ICAs) and the development of a network of abnormal collateral vessels. This case depicts a 25-year-old African American female patient with neurofibromatosis type 1 (NF-1), whose initial hospital presentation occurred in a hypertensive emergency setting. Surveillance studies with magnetic resonance imaging (MRI) revealed multiple asymptomatic right cortical strokes. Genetic testing evidenced a novel, unique pathogenic variant on the NF-1 gene. The patient underwent combined bypass surgery first and then was placed on aspirin and a blood pressure control regimen. Our case illustrates the need for clinicians to include moyamoya disease in the list of differential diagnoses when encountering a young patient, without major risk factors, presenting with ischemic stroke. It should be considered even with no known history of previously diagnosed MMD or NF-1, as these pathologies may have yet to be evaluated in subclinical cases.

Fetal deformations: a risk factor for obstetrical brachial plexus palsy?

The purpose of this report is to discuss the association of brachial plexus palsy and congenital deformations. We reviewed all charts of patients less than 1 year of age with obstetrical brachial plexus palsy evaluated by one of the authors (IA) between January 1998 and October 2005 at Miami Children's Hospital Brachial Plexus Center. Of 158 patients with obstetrical brachial plexus palsy, 7 had deformations (4.4%). Deformations were present in 32% of patients delivered by cesarean section, but in only 2% of patients delivered vaginally. The deformations were ipsilateral, involving the chest in two patients, distal arms in two patients, proximal arm in one patient, ear in one patient, and the leg in one patient. All patients with deformations had unilateral Erb's palsies. None had a history of maternal uterine malformation. Two presumptive mechanisms of injury, one causing the deformation (compressive forces) and one causing brachial plexus palsy at the time of delivery (traction forces), were present in all cases. The higher incidence of deformation in patients with obstetrical brachial plexus palsy born by cesarean sections and the presence of two presumptive mechanisms in all of the cases presented here raises the possibility that fetal deformations are a risk factor for obstetrical brachial plexus palsy.

Bilateral decreased oxygenation during focal status epilepticus in a neonate with hemimegalencephaly.

Early surgical removal of a dysplastic hemisphere appears to be beneficial for neonates with hemimegalencephaly and medically resistant seizures. We analyzed the changes in the cerebral regional oxygen saturation index in a neonate with tuberous sclerosis and right hemimegalencephaly (1) during seven episodes of right hemisphere electroencephalographic status epilepticus with and without clinical manifestations and (2) after right hemispherectomy. The cerebral regional oxygen saturation index demonstrated marked fluctuations and progressive decline in both hemispheres during the episodes and normal values in the remaining hemisphere after surgery. We speculate that decreased oxygenation of the nonepileptic cerebral hemisphere in patients with hemimegalencephaly and medically resistant seizures can contribute to the production of global neurologic impairments in these patients and that the benefits of early hemispherectomy are due to the improved oxygenation of the nondysplastic hemisphere following surgery.

The role of palmaris muscle tendon in mitral valve annulus reconstruction: a novel technique for mitral valve repair.

BACKGROUND: Autogenous tissue for heart valve repair is limited to pericardium and fascia lata. Prosthetic annuloplasty rings have limitations and are expensive. No previous cadaveric study has documented autotransplantation of forearm tendons for mitral valve repair. The purposes of this anatomical study were (1) to determine the feasibility of using tendons for annular reconstruction during mitral valve repair (band or ring shape) and (2) to compare the metric dimensions and gross morphology with those of prosthetic rings. METHODS: The palmaris tendon (PM) (n = 7) was harvested from forearms of human cadavers and prepared in the dissecting room. The tendon was incorporated along the valve annulus. Surgery consisted of mitral valve annuloplasty performed with an undersized and a complete tendon. RESULTS: On gross handling PM tissue was morphologically resilient. Preparation and use of PM for annuloplasty were feasible. Anatomical reconstruction of the annulus with autogenous tissue using this tendon also was feasible. The annulus behaved as a flexible ring that allowed for improved atrioventricular continuity. Complete (n = 7) and partial (n = 7) annuloplasty rings were constructed. Metric dimensions were similar to those of prosthetic rings. CONCLUSION: PM is a suitable novel autogenous tissue that can be harvested together with the radial artery and has direct relevance in ischemic mitral valve regurgitation. These tendons can be easily utilized to achieve results similar to those of pericardial reconstruction and prosthetic annuloplasty rings. The tissue is readily available from the patient, and no extra cost is incurred. Further chemical studies in the human subjects are warranted.

Plantaris tendon graft for atrioventricular valve repair: a novel hypothetical technique.

Heart valve repair is a biomaterial-dependent procedure, yet autogenous tissue for valvular reconstruction has to date been obtained mostly from the pericardium and fascia lata. Most clinical studies recommend valve repair as an alternative to replacement. We now put forward a hypothesis, extrapolated from hand surgery, for use of the plantaris tendon in heart valve repair. This proposal, if implemented, would increase the supply of autogenous donor tissue for valve repair, thereby enhancing the surgeon's armamentarium. The report describes a novel technique that in our judgment warrants future clinical development.