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Luis M Tumialán

Publications and source records attributed to Luis M Tumialán.

10 recordsLinked to original sources
PubMed2006

Alagille syndrome and aneurysmal subarachnoid hemorrhage. Case report and review of the literature.

The authors report the case of a 21-year-old female with a known history of Alagille syndrome (AGS) who was found to have a basilar terminus aneurysm without evidence of rupture. Prior to intervention, the patient's hospital course became complicated by multiple medical problems associated with AGS. Subsequently, the patient had an acute neurological decline. An unenhanced CT of the head demonstrated diffuse subarachnoid hemorrhage, intraparenchymal hematoma and intraventricular hemorrhage. AGS is an autosomal dominant arteriodysplastic syndrome with multiple organ system involvement caused by a mutation in the Jagged1 gene. Intracranial hemorrhage is one of the many complications observed in this patient population. While there are multiple case reports in the literature reviewing the spectrum of cerebrovascular events and abnormalities, intracranial aneurysmal rupture has only recently been described. To our knowledge, this is the third reported case of documented aneurysmal subarachnoid hemorrhage in a patient with AGS. The authors present a brief review of the vascular abnormalities both intracranial and systemic seen in AGS. The genomic abnormalities of this syndrome are also reviewed with particular attention to the Jagged1 gene and the Notch receptor signaling pathway which may reveal elements of the pathophysiology involved in aneurysm formation and rupture in AGS patients. In light of the increased incidence of intracranial hemorrhage in AGS and the possible link to aneurysmal subarachnoid hemorrhage, establishing the incidence of intracranial aneurysms in AGS and the role of screening these patients is indicated.

Adult↗
PubMed2006

Spontaneous bacterial peritonitis causing Serratia marcescens and Proteus mirabilis ventriculoperitoneal shunt infection. Case report.

The authors report their experience treating a polymicrobial ventriculoperitoneal (VP) shunt infection in a developmentally delayed 21-year-old woman. Cerebrospinal fluid (CSF) cultures grew Serratia marcescens and Proteus mirabilis. On admission and throughout her hospitalization, results of physical examination of her abdomen were normal, and radiographic studies showed no evidence of bowel perforation or pseudocyst formation. Contrast-enhanced computed tomography of the abdomen revealed a small fluid collection. After a course of intravenous gentamicin and imipenem with cilastatin in conjunction with intrathecal gentamicin, the infection was resolved and the VP shunt was reimplanted. Although VP shunt infections are not uncommon, S. marcescens as a causative agent is exceedingly rare and potentially devastating. Only two previous cases of S. marcescens shunt infection have been reported in the literature. Authors reporting on S. marcescens infections in the central nervous system (CNS) have observed significant morbidity and death. Although more common, the presence of P. mirabilis in the CSF is still rare and highly suggestive of bowel perforation, which was absent in this patient. Spontaneous bacterial peritonitis was the likely source from which these bacteria gained entrance into the VP shunt system, eventually causing ventriculitis in this patient. The authors conclude that in light of the high morbidity associated with S. marcescens infection of the CNS, intrathecal administration of gentamicin should be strongly considered as part of first-line therapy for S. marcescens infections in VP shunts.

Adult↗
PubMed2006

Isolated painful third nerve palsy.

A 50-year-old woman presented with an acute painful complete third nerve palsy involving the pupil. Noninvasive imaging ruled out an aneurysmal compression of the third nerve, and brain magnetic resonance imaging demonstrated an intrinsic lesion of the third nerve. Work-up remained negative. All symptoms and signs resolved with steroids. In this case review, we briefly discuss the management of isolated third nerve palsies.

Decision Trees↗
PubMed2005

Optic nerve glioma and optic neuritis mimicking one another: case report.

OBJECTIVE AND IMPORTANCE: The clinical and radiographic presentations of optic nerve gliomas and optic neuritis are for the most part distinct and their diagnoses straightforward. We present two cases illustrating the occasional difficulty one can encounter in distinguishing neoplastic from inflammatory optic neuropathies. CLINICAL PRESENTATION: Patient 1 is a 17-year-old girl who presented with acute onset of pain and rapidly progressive visual loss in the right eye. Patient 2 is a 38-year-old man who presented with painless progressive visual loss in the left eye. INTERVENTION: Patient 1 was initially diagnosed with idiopathic retrobulbar optic neuritis. Interval increase of the optic nerve on magnetic resonance imaging prompted a biopsy of the optic nerve, which revealed a pilocytic astrocytoma. Patient 2 was found to have left optic nerve enhancement most consistent with an optic nerve glioma. Before a biopsy, the patient spontaneously improved without treatment, indicating an inflammatory process. CONCLUSION: Differentiating between optic nerve neoplasm and inflammation may be difficult. On occasion, the classic clinical finding of pain with eye movement and the radiographic finding of enlargement and enhancement of the optic nerve may be misleading. Open biopsy of the optic nerve is indicated only after a completely negative metabolic, infectious, and inflammatory workup; interval increase of the optic nerve on magnetic resonance imaging; and failure of the patient to recover vision.

Adolescent↗
PubMed2005

Alagille syndrome.

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Alagille Syndrome↗
PubMed2005

Spinal intradural clear cell meningioma following resection of a suprasellar clear cell meningioma. Case report and recommendations for management.

The authors report on 32-year-old woman with a history of a previously resected suprasellar clear cell meningioma (CCM), who returned to their institution after 3 years suffering from progressively worsening leg and back pain associated with leg weakness and bowel and bladder dysfunction. A magnetic resonance image of the thoracic and lumbar spine demonstrated a homogeneously enhancing intradural mass that filled and expanded the thecal sac. The patient underwent multiple-level laminectomies for resection of the lesion. Results of pathological studies confirmed distant recurrence of a CCM. Since its initial recognition as a rare but aggressive histological variant of meningothelial tumors, the body of literature on CCMs has grown to include more than 40 cases. Nevertheless, the natural history of this neoplastic entity remains ill defined, as are the recommendations for management. Of particular concern is the treatment of patients who have undergone subtotal resection or present with recurrence. To the authors' knowledge, the present case represents the sixth distant recurrence of CCM reported in the literature. The radiographic and histological studies are reviewed along with the current literature on this subtype of meningioma. Recommendations for surveillance and treatment are made.

Adult↗
PubMed2005

Arachnoid cyst with associated arachnoiditis developing after subarachnoid hemorrhage. Case report.

The authors report the case of a 53-year-old woman in whom a T1-T2 spinal arachnoid cyst with associated arachnoiditis developed, compressing the thoracic spinal cord 1 year after the patient had suffered a Hunt and Hess Grade IV subarachnoid hemorrhage (SAH). Development of spinal arachnoiditis with or without an arachnoid cyst is a rare complication of aneurysmal SAH. Risk factors may include posterior circulation aneurysms, the extent and severity of the hemorrhage, and the need for cerebrospinal fluid diversion. Surgical drainage, shunt placement, or cyst excision, when possible, is the mainstay of treatment.

Aneurysm, Ruptured↗