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1/195. MR and CT imaging in the Dyke-Davidoff-Masson syndrome. Report of three cases and contribution to pathogenesis and differential diagnosis.

    Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented.
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2/195. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.

    OBJECTIVE: To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period. methods: Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. review of the clinical and laboratory findings during pregnancy and the neonatal period in two siblings affected with HPS. RESULTS: Compound heterozygosity of the fetus in KCNJ1 (D74Y/P110L) confirmed the clinical diagnosis of HPS at 26 weeks of gestation. indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to the elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur. CONCLUSIONS: Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion.
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3/195. hepatic encephalopathy--a physostigmine-reactive central anticholinergic syndrome?

    This report describes an association between hepatic encephalopathy and central anticholinergic syndrome (CAS). A 60-year-old anaemic woman was admitted unconscious and with a delayed reaction to pain but with no focal neurological deficits. She had signs of portal hypertension and a history of non-alcoholic liver cirrhosis grade child B. Suspecting upper gastro-intestinal bleeding, she was intubated for gastro-duodenoscopy and a fibrin-covered ulcer was revealed. Raised intra-abdominal pressure resulting from ascites caused cardiopulmonary failure, which required mechanical ventilation for 24 h, but extubation was possible after drainage of the ascites and blood volume replacement therapy. However, her neurological state remained unchanged despite normal blood ammonia concentration and no sedation. CAS was considered and physostigmine injected with immediate effect. The patient opened her eyes immediately and was fully orientated to personal and medical history. We suggest that hepatic encephalopathy may trigger CAS, although the significance of physostigmine in the treatment of hepatic encephalopathy remains to be addressed by controlled investigations.
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4/195. Secretory villous adenomas that cause depletion syndrome.

    Secretory villous adenomas of the colon have been known to cause a depleting syndrome characterized by dehydration, prerenal azotemia, hyponatremia, hypokalemia, metabolic acidosis, obtundation, and, in severe cases, death. We describe 1 case of classic depleting syndrome and review the literature on possible mechanisms. Both cyclic adenosine monophosphate and prostaglandin E2 have been implicated as possible secretagogue compounds in the pathogenesis of this syndrome unique to the secretory variant form of villous adenomas. indomethacin as a prostaglandin inhibitor has been used with apparent benefit in controlling the volume of rectal effluent in patients with secretory villous adenomas.
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5/195. Linear epidermal nevus and nevus sebaceus syndromes: a clinicopathologic study of 3 patients.

    BACKGROUND: Linear epidermal nevus syndrome and linear sebaceus nevus syndrome are rare neurocutaneous syndromes characterized by epidermal nevi, epilepsy, and mental retardation. Pathologic descriptions of the central nervous system findings in such patients are rare. DESIGN: We examined the clinicopathologic features of 2 patients with linear epidermal nevus syndrome and 1 with nevus sebaceus syndrome who underwent surgical resections for chronic epilepsy in a tertiary referral center with a high volume of epilepsy surgery. RESULTS: patients included 3 females, aged 11 months (patient 1), 8 years (patient 2), and 2 1/2 years (patient 3) at the time of surgery. The duration of seizures prior to surgery was 11 months, 6 years, and 28 months, respectively. Two patients had epidermal nevi involving the head region (patients 1 and 3), and 1 had a nevus sebaceus of Jadassohn (patient 2); patient 2 had a choristoma, and patient 3 had a dermoid cyst in the eye region. Patient 1 demonstrated hemimegalencephaly radiographically. Histologic examination of resected cortical tissue in patients 1 and 2 demonstrated severe diffuse cortical dysplasia characterized by a disorganized cortical architectural pattern, a haphazard orientation of cortical neurons, and increased molecular layer neurons. Gyral fusion was seen in patient 1. Pial glioneuronal hamartomas were observed in patient 1. Prominent cortical astrocytosis was seen in patients 1 and 2, and foci of microcalcification were evident in patient 1. Cortical dysplasia was milder in patient 3 and consisted of an increased number of molecular layer neurons. Neuronal heterotopia was observed in all 3 patients. CONCLUSION: The spectrum of neuronal migration abnormalities in the setting of these syndromes may be variable in terms of its histologic phenotypic manifestations.
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6/195. scoliosis secondary to cerebrocosto-mandibular syndrome. A case report with surgical management.

    STUDY DESIGN: A case report of scoliosis secondary to cerebrocosto-mandibular syndrome. OBJECTIVES: To bring about awareness of the scoliosis and respiratory problems associated with this rare syndrome. SUMMARY OF BACKGROUND DATA: Of the approximately 50 cases of this syndrome previously reported, only 3 involved scoliosis, and only 1 of these required surgery (but the patient expired). methods: A retrospective chart was made, and a radiologic review were done. RESULTS: A successful surgical outcome was achieved, despite severe preoperative curvature (112 degrees scoliosis) and diminished pulmonary function (21% vital capacity). CONCLUSION: This syndrome can be associated with progressive scoliosis but can be managed successfully with surgery.
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7/195. Systemic sarcoidosis and cutaneous lymphoma: is the association fortuitous?

    The association of systemic sarcoidosis and malignant lymphoma is known as the 'sarcoidosis-lymphoma syndrome'. Cutaneous involvement is rare in this syndrome. We report a 52-year-old woman who was diagnosed as having tumour-stage mycosis fungoides. Complete remission was achieved by combination therapy consisting of isotretinoin, interferon (IFN) alpha, electron beam irradiation, photochemotherapy and topical corticosteroids. Three years later, the patient developed systemic sarcoidosis characterized by yellowish papules on the abdominal wall and the eyelids that histologically revealed non-caseating granulomas, multiple fine-nodular interstitial pulmonary infiltrates on chest X-ray, hilar lymphadenopathy, decreased vital capacity and increased lymphocyte count in bronchoalveloar lavage fluid. As opposed to most of the reported cases, in our patient the manifestation of cutaneous lymphoma preceded the diagnosis of systemic sarcoidosis. We review the cases reported in the literature and discuss a possible causal and temporal relationship as well as the role of IFN alpha in the development of sarcoidosis.
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8/195. The use of patient-controlled boluses of local anaesthetic via a psoas sheath catheter in the management of malignant pain.

    patients who develop malignant infiltration of the psoas muscle and the lumbar plexus often experience a severe complex pain syndrome characterised by deep somatic pain, neuropathic pain and psoas spasm. Conventional analgesic regimes may not relieve these symptoms adequately. We describe the use of patient-controlled boluses of local anaesthetic via a psoas sheath catheter in this scenario. The recent availability of portable infusion pumps with the capability to deliver large volume boluses with long lockout times made this intervention possible and allowed the patient to be discharged home with effective relief of pain.
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9/195. Therapeutic plasma exchange in patients with chylomicronemia syndrome complicated by acute pancreatitis.

    Chylomicronemia syndrome (CMS) is a rare disorder characterized by the presence of chylomicrons in the fasting state causing a milky appearance of plasma, eruptive xanthomas, and hepatosplenomegaly; an acute and potentially life threatening complication is severe acute pancreatitis. The underlying defects are inborn errors of metabolism such as deficiencies of lipoprotein lipase (LPL) or apoprotein C-II (apo C-II) as well as familial hypertriglyceridemia. Moreover, CMS can be precipitated when mild hypertriglyceridemia is exacerbated by additional factors such diabetes mellitus, ethanol abuse, or pregnancy. The purpose of the present study was to retrospectively analyze the results of therapeutic plasma exchange (TPE) in 5 patients transferred to our hospital for severe acute pancreatitis due to chylomicronemia syndrome. In a total of 7 TPE sessions, on average 3,286 /- 247 ml of plasma (i.e., about 1 patient plasma volume) were treated per session. Triglyceride (TG) levels were decreased from 4,972 /- 2,469 mg/dl on admission to 1,614 /- 1,276 mg/dl (-70%) after the TPE sessions, and a further decrease was achieved by conservative treatment. Part of the TG reducing effect of the treatment was probably due to heparin induced lipolysis. Acute pancreatitis was resolved in all cases, and 1 pregnant patient delivered without problems at term. In summary, 1 or 2 TPE sessions sufficed to substantially decrease the bulk of triglycerides in acutely exacerbated chylomicronemia syndrome causing a rapid resolution of acute severe pancreatitis.
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10/195. Left bronchial isomerism, normal atrial arrangement and bronchomalacia mimicking asthma: a new syndrome?

    Three children who presented with steroid-resistant airflow obstruction are described. They all had bronchomalacia in the setting of a rare visceral arrangement, namely left bronchial isomerism with normal atrial arrangement. Imaging and, in two cases, a normal residual volume in the face of severe airflow obstruction were diagnostic pointers to a nonasthmatic cause of wheeze. Although the association of these abnormalities may be coincidental, together they may constitute a new clinical syndrome.
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