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BRUEGEL'S SYNDROME

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P. MISNOMER

Avinoam B. Safran, M.D.

Bruegel's syndrome was first proposed in 1 976 as an eponym for blepharospasm-oromandibular dystonia syndrome, because it was felt that a portrait by Pieter Bruegel the Elder (1 525-1 569) demonstrated that the painter clearly recognised the syndrome. This designation has subsequently been widely accepted in the literature. It is however most unlikely that the painter did actually depict the dystonia syndrome. Indeed, I found that, according to experts on Bruegel, the portrait is part of a series of medallions depicting the «Seven Deadly Sins». The painting is listed under the name of «The Yawner», and was meant to represent laziness.

AN ATYPICAL CAUSE FOR "PSEUDOTUMOR CEREBRI": SUPERIOR SAGITTAL SINUS THROMBOSIS SECONDARY TO CONGENITAL DYSFIBRINOGENEMIA
Robert F. Undberg, D.O. David I. Kaufman, D.O., Houria Ha.sscunia, M.D.,and Philip Lee Shettle, D.O.

Abstract: Headache, papilledema and visual disturbances accompanied by increased intracranial pressure in the absence of an identifiable mass lesion define the diagnosis of pseudotumor cerebri. S uperior sagittal sinus (SSS) thrombosis is a well-known cause of pseudotumor cerebri (PTC) . SSS thrombosis is most commonly caused by contiguous infection from the meninges, sinuses or oral cavity, and less commonly from blood dyscrasias. We present the first documented case of a congenital dysfibrinogenemia as a cause of SSS thrombosis in a thin 46 year old male. The hematologic methodology arriving at this diagnosis is reviewed, as well as MRI diagnosis, including the emerging technique of phase-contrast MRI angiography. The character­ istics of congenital dysfibrinogenemias and the importance of carefully searching for primary causes of SSS thrombosis are highlighted. Discussion: On admission, pertinent neuro-ophthalmologic findings included subtle lateral rectus weakness OU, Frisen g rade 4 papilledema OU, very enlarged blind spots on visual fields, and mild right hemiparesis. A non-contrasted CT was performed, and after determination of the patency of the ventricular system was established, a lumbar puncture was performed. The opening pressure was noted to be markedly elevated at > 550 mm H20; the closing pressure was 200 mm H20. Glucose was 62 mg/dl and protein was 57 mg/dl; there were no WBCs or RBCs noted, and cultures, stains and cytology were negative. A contrasted CT demonstrated no enhancing intracranial lesions. A provisional diagnosis of an atypical pseudotumor cerebri was made. MRI examination revealed an increase in signal intensity in the region of the superior sagittal sinus, which was consistent with methemoglobin formation associated with thrombosis of the superior sagittal sinus. This was confirmed through the use of phase-contrast MRI angiography. Prothrombin time (PT) , activated partial thromboplastin time (APTT) , thrombin time (TT) and reptilase time were abnormal. Fibrinogen concentration, protein C and S levels as well as sialic acid content per mol of fibrinogen were l')ormal. The percentage activity of prothrombin and all other procoagulant enzymatic and non-enzymatic factors were 80 to 1 00 % measured in factor deficient substrate plasmas. Fibrinogen related antigen in serum was within the normal range. Analysis of the rate of thrombin induced clotting on serial dilutions of patient plasma was compared to control plasma. The slope of fibrinogen/fibrin gelation from the patient is abnormal. As fibrinopeptide release occurred in a normal fashion, the alpha and beta chains were normal. Since the arrangement of the amino acids is genetically­ based, it was further determined that this error represented a congenital dysfibrinogenemia, involving the gamma chain of the fibrinogen molecule.
REFERENCES: 1. 2. 3. Corbett JJ • .Savino PJ, Thompson HS e1 al.: Visual loss in pseudotumor cerebri. Arch Neurol 39: 461 -474, 1 982. Gillis JP et at.: Benign intracranial hypenension: Pseudotumor cerebri from obs1ruction of dural sinuses. Arch Ophthat 78: 592·595, 1 967. Menache 0: Abnormal fibrinogens: a review. Thromb Oiath Haemorrh 29: 525, 1 979