121/506. Variegate porphyria presenting with acute autonomic dysfunction, intussusception and renal infarction. A 48-year-old man presented with abdominal pain, constipation and irritability one month after starting phenytoin treatment for a generalized seizure. He was hypertensive, tachycardic (BP 174/98, heart rate (HR) 100 bpm supine) and hypovolaemic. Abdominal CT demonstrated transient jejunal intussusception and infarction of the left kidney. Urinary porphobilinogen levels were increased and genetic analysis confirmed the diagnosis of variegate porphyria. Because of ongoing postural hypotension, the patient underwent further autonomic investigations. Levels of blood pressure (MBP), HR and muscle sympathetic activity (MSNA) were increased during the acute attack compared to recovery (131 versus 105 mmHg, 100 versus 60 bpm, 88 versus 26 bursts min(-1)). HR and MSNA did not increase during phase II Valsalva, whereas stroke volume (SV) decays were exaggerated (deltaMBP-56 versus 0-31 mmHg and SV 25% versus 40% baseline). baroreflex failure causing increased sympathetic activity, decreased sympathetic and parasympathetic rapid responses, loss of splanchnic capacitance and renal salt wasting were the likely mechanisms for postural hypotension. Increased sympathetic activity may also have caused intussusception and focal renal vasoconstriction, both of which may be underdiagnosed causes of abdominal pain in acute porphyria. ( info) |
122/506. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BACKGROUND: Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13. CASE PRESENTATION: We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features, including: accommodative spasm, dry eye, superficial punctate keratopathy, and pupillary hypersensitivity to dilute pilocarpine. MRI showed small lacrimal glands bilaterally. dna sequencing of PCR-amplified fragments from the 16 exons of the AAAS gene revealed compound heterozygosity for a new, out-of-frame 5-bp deletion in exon 15, c1368-1372delGCTCA, and a previously-described nonsense mutation in exon 9, c938C>T, R286X. CONCLUSIONS: In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction. ( info) |
123/506. Paroxysmal autonomic alterations mimicking epilepsy: a case report. A 22-year-old male patient presented with paroxysmal hyperhidrosis, mydriasis, hypertension, and tachycardia. Cranial and cervical MRI revealed focal atrophy in the high order zone of the central autonomic network and syringomyelia. His physical and neurological examinations were unremarkable. Physiological testing included EEG, SPECT, serum/urine tests and autonomic testing. A poor response was achieved with the medical and interventional procedures employed. As the central autonomic network is an integral component of the internal regulation system of the brain, any lesion, no matter where in the network, may lead to paroxysmal autonomic alterations mimicking epilepsy (Published with videosequences). ( info) |
124/506. Unilateral hyperhydrosis in Pourfour du Petit syndrome. Upper limp hyperhydrosis is an idiopathic disease with bilateral involvement. However, Pourfour du Petit syndrome, the opposite of horner syndrome, may result in unilateral upper limb hyperhydrosis. It occurs following hyperactivity of the sympathetic cervical chain as a consequence of irritation secondary to trauma. We report herein two cases with Pourfour du Petit syndrome showing unilateral upper limb hyperhydrosis. The patients presented with right-sided mydriasis and ipsilateral hemifacial hyperhydrosis. The onset of disease was followed by a trauma in both patients. They underwent upper thoracic sympathectomy with favorable outcome. A history of an antecedent trauma in patients with unilateral upper limb hyperhydrosis and anisocoria may imply a possible diagnosis of Pourfour du Petit syndrome. ( info) |
125/506. Alphafoetoprotein and acetylcholinesterase in amniotic fluid as a factor suggesting fetal skin and nerve lesions in a case of congenital varicella syndrome. BACKGROUND: prenatal care of pregnant women exposed to varicella skin rash during the first half of pregnancy remains a frequent concern in countries that do not have access to systematic vaccination. The frequency of maternofetal transmission is low. Ultrasound is the usual tool for prenatal survey of exposed fetuses. But many anomalies due to VZV infection are not accessible to ultrasound alone. CASE REPORT: We review a case in which the diagnosis of fetal infection suspected due to transient fetal bowel hyperechogenicity was confirmed in amniotic fluid by molecular biology (PCR). RESULTS: An unusual elevation of alphafoetoprotein in maternal blood and in amniotic fluid was associated with inguinal skin, muscular and nerve destruction. CONCLUSION: In fetuses diagnosed with in utero varicella infection, in addition to a precise diagnosis and follow-up, we suggest that elevated AFP levels in maternal blood and amniotic fluid together with the presence of acetylcholinesterase in amniotic fluid may be related to lesion of fetal skin and nerves. ( info) |
126/506. Hypothalamic activation in trigeminal autonomic cephalgia: functional imaging of an atypical case. We report headache induced BOLD changes in an atypical case of trigeminal autonomic cephalgia (TAC). A 68-year-old patient was imaged using fMRI during three attacks of a periorbital head-pain with a average duration of 3 min. During the attacks, left sided conjunctival injection, rhinorrhea, lacrimation, facial sweating and hypersalivation were apparent. These attacks were usually partly responsive to oxygen administration but otherwise refractory to any drug. The patient described either attacks with a duration of one minute or less or longer attacks persisting for maximum of 20 min with headaches occurring up to 100 times a day. When considering the symptoms, frequency, duration and therapeutic response of the patient's headache, no clear-cut classification to one of the subtypes of trigeminal autonomic cephalgias (cluster headache, paroxysmal hemicrania, SUNCT) or trigeminal neuralgia was possible. The cerebral activation pattern was similar but not identical to those previously observed in cluster headache and SUNCT with a prominent activation in the hypothalamic grey matter. This case study underlines the conceptual value of the term TAC for the group of headaches focusing around the trigeminal-autonomic reflex. Our results emphasize the importance of the hypothalamus as key region in the pathophysiology of this entity. ( info) |
| Severe guillain-barre syndrome (GBS) usually results in life-threatening autonomic disturbances requiring a close monitoring of the patient in an intensive care Unit. Besides dangerous cardiac manifestations, neuroendocrine changes are also reported and could induce electrolytes and fluid balance impairments. polyuria has been observed in a severe case of GBS occurring in a 16-year-old boy. Consecutive blood samples were obtained for renin, aldosterone, antidiuretic hormone and atrial natriuretic factor measurements. polyuria in GBS is multifactorial and would be partly due to a dysregulation of osmoreceptors. ( info) |
128/506. Chronic inflammatory demyelinating polyradiculoneuropathy with autonomic involvement. We report a case of chronic acquired neuropathy predominantly affecting sensory and autonomic nerves. Investigations showed a demyelinating polyradiculoneuropathy with axonal degeneration and depletion of postganglionic noradrenergic fibers in the rectal mucosa. Intravenous immunoglobulin and corticosteroid administration were effective in alleviating symptoms and improving electrophysiological abnormalities. This neuropathy may be a novel variant of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), in which autoimmunoreactivity is directed not only against myelin but also against axon- or ganglion-composing protein. Autonomic nerve involvement does not exclude a diagnosis of CIDP. ( info) |
| The authors report the clinical and postmortem neuropathologic findings of two patients, one with parkinson disease (PD) and one with dementia with lewy bodies (DLB), both of whom initially sought treatment for isolated autonomic failure. These cases suggest that neurodegeneration in PD and DLB may begin outside the CNS in autonomic postganglionic neurons, a finding with potential diagnostic and therapeutic implications. ( info) |
130/506. Splaying of the carotid bifurcation caused by a cervical sympathetic chain schwannoma. Splaying of the carotid bifurcation revealed by an imaging study is usually indicative of a carotid body tumor, but there are other possibilities. To promote awareness of a cervical sympathetic chain schwannoma as another cause of splaying of the carotid bifurcation, we present a case of cervical sympathetic chain schwannoma, with an additional 7 cases in the English-language literature, and discuss the relationship between the great vessels of the neck and a carotid body tumor or a schwannoma of the cervical sympathetic chain or vagus nerve from an anatomic viewpoint. We conclude that splaying of the carotid bifurcation with hypervascularity suggests a carotid body tumor, whereas in cases without hypervascularity, a cervical sympathetic chain schwannoma is another possibility. vagus nerve schwannomas can separate the internal jugular vein and internal carotid artery, but seldom widen the carotid bifurcation. ( info) |