Apert and Pfeiffer type 2 syndromes are low-prevalence genetic anomalies produced by a mutation in genes that codify the receptors of the fibroblastic growth factor. They are characteristic in presenting coronal craniosynostosis and syndactyly. Clinically, they are differentiated by moderate to severe mental retardation, polydactyly, and poor prognosis, typical of the Pfeiffer-type 2 syndrome; while in Apert’s syndrome mental retardation is mild and occasional, there is no polydactyly and has a better prognosis. It is not easy to differentiate clinically these two syndromes. We report a case of Apert syndrome and a case of Pfeiffer-type 2 syndrome, each with typical clinical characteristics. Furthermore, a review on the physiopathology and the phenotypical characteristics of these two syndromes, is performed.
Reportes de Casos Clínicos
Síndromes de Apert y Pfeiffer 2: Una aproximación diagnóstica.
Diagnóstico prenatal enzimático de Enfermedades Lisosomales en Cuba.
In our country the prenatal diagnosis of lysosomal diseases with enzymatic techniques has been conducted since 1988. This paper describes 12 clinical cases of prenatal diagnosis in 11 couples who were known carriers of lysosomal diseases, all with affected and/or deceased children. Mothers underwent amniocentesis between 16-20 weeks of pregnancy, and samples were simultaneously processed with a control of the same gestational age. Amniocytes were cultured during 18 days, after which the enzymatic activities of α-L-iduronidase (for the MPS I case), arylsulphatase B (for MPS VI cases), α-L-fucosidase (for fucosidosis cases), β-galactosidase (for GM-1 gangliosidosis cases), β-glucosidase (for Gaucher cases), hexosaminidase A (for the Tay-Sachs case) and sphyngomyelinase (for the Niemann Pick case) were quantified. All 12 prenatal diagnoses were negative for the corresponding lysosomal disease and all pregnancies ended in a healthy newborn and in children with normal living. We concluded that prenatal enzymatic diagnosis was useful for defining the possible affection of the fetus and contributed to support genetic counseling for lysosomal diseases, although it does not rule out the need for molecular biology in doubtful cases.
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Trombosis Venosa Cerebral en una paciente con Linfoma no Hodgkin en remisión.
Introduction: Cerebral venous thrombosis is an unusual complication, scarcely reported in patients with non-Hodgkin lymphoma with indolent and not too aggressive type.
Case report: We describe the clinical picture of a woman with low degree non-Hodgkin lymphoma with an evolution of one year remission post treatment, who developed a sinus rectus thrombosis without relationship with intracranial extension nor treatment induced hypercoagulability state. The first manifestation was isolated migraine.
Conclusion: In patients with non-Hodgkin lymphoma and isolated migraine is important to perform neuroimaging studies in order to exclude a cerebral venous thrombosis.
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Hemangioblastoma de fosa posterior asociado a enfermedad de Von Hippel Lindau.
Hemangioblastomas are benign tumors with a cystic appearance. They represent between 1-2% of tumors affecting the nervous system and between 8-12% of all expanding processes of the posterior fossa in adults. Hemangioblastomas are characteristically found in young adults and have a peak incidence in the fourth decade of life. They are associated with Von Hippel Lindau (VHL) disease, an autosomic dominant trait with incomplete penetrance. We report a case of a 33 years old female with no significant family history, the past medical history was significant for ventriculoperitoneal shunting due to hydrocephalus secondary to reactive gliosis of the posterior fossa.
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Tratamiento del Temblor Esencial mediante Talamotomía Estereotáxica.
Essential tremor is characterized by its low frequency, mainly affecting upper extremities and less frequently lower limbs and head. The origin of this disease is not well known, but it has been described in familiar forms as an autosomic dominant hereditary transmission pattern. We report three patients with essential tremor refractory to pharmacotherapy who underwent stereotactic thalamotomy of the ventrolateral nucleus. In all cases the procedure was unilateral. In two patients, the tremor completely remitted and in one patient the tremor decreased more than 50%. Tremor was defined by the Unified Parkinson’s scale. There were no complications related to surgery. We conclude that stereotactic ventrolateral nucleus thalamotomy can be of benefit in patients with essential tremor due to its low morbidity in selected patients.
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Diagnóstico de un paciente con crisis porfírica hepática aguda.
We present a 21 year old woman treated with carbamazepine because of epileptic seizures. She was evaluated at the epilepsy section for possible seizures associated with abdominal pain, psychosis, dysautonomic features and elevated hepatic enzymes. Diagnosis was based on clinical features and biochemical determination of urinary porphobilinogen and absence of fluorescence for porphyrin in blood sample and hepatic tissue. Conclusions: Acute Intermittent Porphyria constitutes a rare cause of symptomatic seizures but the association of seizures with abdominal pain, dysautonomic features, and psychosis suggest the disease and its recognition is very important because it is potentially mortal but suitable to improve with adequate treatment.
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Síndrome de Wolf-Hirschhorn. A propósito de un caso con un cromosoma 4 con satélites.
Introduction: Wolf-Hirschhorn Syndrome (WHS) constitutes an illness of great neuropediatric interest. The correlation cariotype-phenotype in WHS is debated and two phenotypes one “classic” and other “half,” and two genes candidates WHSC 1 and WHSC 2 are reported.
Case report: in the present article we report the clinical and cytogenetics findings in a 13 year-old patient, with “sui generis” cariotype 46, XY, 4ps in high resolution chromosomal study with G bands and Nor techniques. The different clinical findings, cytogenetics studies and the correlation genotype-phenotype were reviewed and discussed according to the current knowledge.
Conclusions: The discovery of the chromosome 4 with satellites in patient with clinical manifestations of the syndrome, it constitutes an evidence that the SWH is the true syndrome for contiguous genes. The human genome and molecular markers studies in this case, give us light in the physiological and pathological roles of those genes WHSC 1 and WHSC 2, reported in the literature.
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Enfermedad de Creutzfeldt Jakob Esporádico: Presentación del Primer Caso Clínico – Patológico en Ecuador.
Introduction: Sporadic Creutzfeldt-Jakob disease (sCJD) has not yet been described in Ecuador.
Methods: We present a 53-year-old patient who came to the Neurology Department of the Eugenio Espejo Hospital because of clinical symptoms and EEG and MRI tests that met the criteria for a diagnosis of CJD, which was later confirmed by neuropathological findings.
Results: That patient was admitted to the hospital because of visual impairments and ataxia. During his stay in the hospital, in addition to blindness, myoclonus and bilateral cortico-spinal signs, the patient’s cognitive functions declined rapidly and progressively. The clinical symptoms, the EEG and MRI were highly suggestive of CJD. The neuropathological findings confirmed this diagnosis.
Conclusion: We report the first case in Ecuador, with neuropathological confirmation, of a patient diagnosed with the Heidenhain variant of sCJD.
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Quiste Aracnoideo de Presentación Ictal.
Arachnoid cysts are benign cystic cavities surrounded by membranes that are indistinguishable from the arachnoid membrane. They contain cerebrospinal fluid in contact with the subarachnoid space. They are frequently asymptomatic and incidentally diagnosed in the adult. Their clinical onset is variable and depends on their size and possible triggering factors. We report a case in which a big arachnoid cyst presented in an unusual way, not finding a background or any triggering factors that might justify this clinical presentation. It is necessary to perform a differential diagnosis from other common affections of sudden onset. Surgical treatment by cystoperitoneal shunting resulted in a complete resolution of symptoms.
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Meningioma Anaplásico del Surco Olfatorio: Reconstrucción Craneofacial Secundaria a Resección Radical de Tumor.
Surgical management of olfactory sulcus meningioma with extension to orbit and perinasal cavities is very complex. It requires a careful and multidisciplinary intervention for complete resection and to avoid potential harmful complications. We report a clinical case of an olfactory sulcus anaplastic meningioma and describe the surgical techniques applied.
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Síndrome de Dejérine – Roussy en un Paciente con Prolapso Valvular Mitral de Reciente Diagnóstico.
Introduction. Dejérine and Roussy described a painful state (spontaneous, persistent and sometimes sharping) as a result of thalamic nuclei vascular lesion (ventro-posterolateral and ventro-posteromedial); other features of this syndrome are hemicoreoatetosis, hemiataxia, homonymous hemianopia and sensitive disorders. We report a clinical case of a male who was diagnosed with this syndrome.
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Déficit de Vitamina B12 y Degeneración Combinada Subaguda de la Médula Espinal: Presentación de un caso y Revisión de la Literatura.
Myelopathy caused by vitamin B12 deficiency is an uncommon entity, because a long period of time must pass in order to appear its signs and symptoms and for the structural lesion to be irreversible. We present a case of a patient with signs and symptoms suggestive of Subacute Combined Degeneration of the Spinal Cord secondary to autoimmune gastritis with a persistent lesion in the posterior columns of the spinal cord as sequelae. The literature about the topic is reviewed.
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Improving writer’s cramp dystonia after prolonged muscle stimulation. Report of two cases.
Focal primary dystonia has been recognized as a motor disorder; nevertheless, some studies suggest that sensory dysfunction might be involved. We report two patients who improved their writer’s cramp dystonia after deep muscle stimulation using acupuncture needles. We support the hypothesis that deep and prolonged stimulation of muscles related to dystonia can modify the cortical sensory-motor response and improve writer’s cramp.
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Síndrome de POEMS, reporte de un caso con doble patrón monoclonal.
POEMS síndrome is an uncommon multisystemic paraneoplastic disorder characterized by the presence of a predominantly motor polyneuropathy associated with other manifestations like organomegaly, endocrinopathy, monoclonal gammopathy and skin changes. We report a case of a 36 years old female with diagnostic criteria for this disorder, and a particular double monoclonal pattern IgG and IgA type., demonstrated by immunofixation.
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Metástasis orbitaria e intracraneal: primera manifestación clínica de cáncer de tiroides.
Metastatic follicular thyroid carcinoma is very rare. We report a case of a 42 years old patiente with a retro-orbital and intracranial metastases, as first clinical manifestation of thyroid cancer.
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Ciclopía Con Sinoftalmía En Un Feto De 27 Semanas.
Cyclopia is a rare congenital malformation that is non-compatible with life, it is characterized by the presence of a single eye in a central position secondary to alobar holoporsencephaly. The cyclopia is of heterogeneous etiology and has a prevalence of 1,05 per 100.000 births. We report a case of cyclopia with synophthalmia in a fetus at 27 weeks.
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Pseudotumor Inflamatorio del Seno Frontal asociado a Crisis Comiciales.
Inflammatory pseudotumor of the paranasal sinuses is a rare, chronic, benign entity that results in symptoms according to the location of the lesion. Sometimes it can be locally invasive, so it must be distinguished from malignant processes. We report a case of a patient who presented with headache and seizures in whom an inflammatory pseudotumor was diagnosed histologically. To our knowledge there are not documented cases of frontal sinus involvement and associated seizures due to intracranial invasion. The differential diagnosis with other entities is difficult despite imaging studies so the biopsy and pathology are key determinants.
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Schwannoma Intraparenquimatoso Cerebral: Un hallazgo infrecuente, a propósito de un caso clínico.
Schwannomas are benign tumors, representing 8% of all intracranial tumors. Those located in acoustic, trigeminal and facial nerve, represent 90 and 95% approximately. Occasionally they localize in brain parenchyma. At present time, there are only 64 reported cases.
Case report: A 31 years old patient without previous history, consults with frontal headache and abnormal movements, initially diagnosed as seizures. In neuroimaging a left frontal intraparenchymal tumor is described.
Conclusions: Schwannomas are benign tumors unusually localized in brain parenchyma. Treatment consists in total or partial surgical resection, with histological confirmation, and radiotherapy treatment.
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Intoxicación por Monóxido de Carbono, Presentación de un Caso.
A 35-year-old patient experienced 2 months, low levels of carbon monoxide exposure, produced by the motor of his vehicle. He experienced drowsiness in the morning. Because of drowsiness he had an automotomobile accident with traumatic brain injury. The only symptom at the time of neurological examination was anterograde amnesia. The magnetic resonance (MRI) of the brain revealed bilateral necrosis of the globus pallidus. We present this case for prevention of carbon monoxide poisoning and as an example of the utility of MRI and neuropsychological examinations in detecting central nervous system dysfunction secondary to CO exposure.
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Encefalomielitis Aguda Diseminada: Formas de Presentación y Espectro Clínico. Serie de Casos.
Acute disseminated encephalomyelitis is an inflammatory demyelinating disease of the central nervous system. Although it often follows an infection or immunization, there are some cases without previous history. It develops usually as a monophasic disease, however recurrent and multiphasic cases have been reported. Its diagnosis is suggested based on clinical features, magnetic resonance imaging and negative complementary test results. We report 5 cases of acute disseminated encephalomyelitis illustrating its wide clinical and prognostic variety. Both mild and significant cases are reported. A previous history of infection was present only in one case. No patient developed symptoms suggesting multiple sclerosis during an 18 to 48 months follow-up. Conclusions: Acute disseminated encephalomyelitis is an uncommon condition that presents with a variety of symptoms. The major differential diagnosis is MS; however other demyelinating and infectious processes must be included. Treatment options include intravenous corticoids, immunoglobulins or plasmapheresis. The patient’s response to treatment is proportional to the prognosis.
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Síndrome de Moyamoya en un niño con Drepanocitosis.
Sickle cell disease is one of the main causes of ischemic stroke in the childhood, generally related with stenosis of the arteries of the anterior carotid circulation. We present the results of the studies carried out in a patient with sickle cell with no history of stroke, in treatment with hidroxyurea. Transcraneal Doppler and Magnetic Resonance Imaging demonstrated the existence of stenosis in medial cerebral arteries and a Moyamoya pattern in the cerebral circulation with hemodynamic ischemic lesions.
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Sindrome parkinsoniano “rígido-acinético” debido a mielinosis extrapontina y mielinosis pontina asintomática secundarios a corrección rápida de hiponatremia.
The osmotic demyelinating syndromes are not always restricted to the pons. The extrapontine myelinolysis is seen in 10% of patients with central pontine myelinolysis. We present a 62-year-old woman who developed hyponatremia due to repeated vomiting. An acute akinetic-rigid syndrome followed rapid correction of hyponatremia. Bilateral putaminal and caudate lesions were seen on MRI. There were no clinical features of pontine involvement even though a typical lesion was seen on MRI. She recovered well with only symptomatic treatment. Although the exact pathogenesis is unknown, the most widely accepted hypothesis is that cellular edema secondary to the fluctuating osmotic forces, with rapid correction of hyponatremia, results in fibre-tract compression and demyelination. In contrast to the generally expected poor outcome in this condition, patients do have good recovery with symptomatic treatment and good nursing care.
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Demencia y Parkinsonismo como Síntomas Iniciales en un Paciente con SIDA.
Dementia and Parkinsonism as early symptoms of AIDS are infrequent. We report the case of a male patient 62 years old, with a history of diabetes – insulin dependent and illicit drug use, who began his symptomatology with dementia and parkinsonism two months before his death.
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Enfermedad de Osler-Weber-Rendu y Neuroinfección: A Propósito de un Caso.
A 68 years old man with a previous diagnostic of Hemorragic Hereditary Telangiectasia (HHT) or Osler-Weber-Rendu Syndrome has been transferred to the emergency room of Metropolitano´s Hospital of Quito because of altered mental status, fever and nuchal rigidity. Complementary studies reported images of ventriculitis and left temporal abscess.
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Epilepsia Parcial Benigna Atípica de la Infancia: Presentación de un Caso Peculiar y Revisión de la Bibliografía.
Introduction: Atypical benign partial epilepsy of childhood is a rare form of epilepsy characterized by a combination of partial seizures, as observed in Partial Benign Epilepsy of Childhood, as well as with centre-temporal paroxysms and generalized seizures; showing furthermore, a continuos peak wake electroencephalographic pattern characteristic of NREM sleep.
Clinical Case: Patient presenting with partial seizures is admitted to the hospital with EEG findings compatible with continuos peak wave electric status of NREM sleep.
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Enfermedad de Creutzfeldt-Jakob. Presentación de un Caso Clínico y Revisión de la Literatura.
Creutzfeldt-Jakob disease is the prototypic rapidly progressive dementia. Esporadic CJD is the most common presentation. We report a 65 year-old patient with primary visual complaints, afterward psychosis with memory and higher cerebral functions complaints. After 4 months of evolution, the patient showed akinetic mutism and myoclonus. In the MRI, anormal hyperintensity was seen on T2 sequences in the subcortical and cortical regions of the occipital lobes. EEG revealed periodic generalized triphasic waves. We present this patient with the Heindenhain variant of sporadic CJD, in order to consider it when were are faced with a patient with rapidly progressive dementia (RPD). We emphasize the importance of early diagnosis for prognostic value and for minimize the risk of accidental iatrogenic transmission.
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Partial Thenar Atrophy as a Physical Manifestation of Martin Gruber Anastomosis.
Martin Gruber anastomosis is a frequent finding on electrodiagnostic examination and has three common variants. Much has been written about these variants such as the anatomic course of crossover fibers and the electrodiagnostic findings. However, little has been written on associated physical findings that might suggest such a diagnosis. In this report the physical examination findings clearly supported a diagnosis of a Type III Martin Gruber anastomosis that was initially established through electrodiagnostic testing. Awareness of this pattern on physical examination could provide an early clue to the possible presence of anomalous innervation.
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Meningitis Crónica por Angiostrongylus Cantonensis.
Two patients with chronic meningitis due to the helmint Angiostrongylus cantonensis are reported. Two years after the primary infection from a previous outbreak, both patients had pain in lumbosacral region, leg weakness, headache and sleep disturbances among other symptoms. Intrathecal synthesis of IgA, IgM and IgG was found. Nuclear magnetic resonance showed temporal atrophy in one patient and in the other one a T2 hyperdense lesion zone in right parietal region at white zone level. It is the first report of chronic disease because of this parasite in the Americas.
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Encefalomielitis Aguda Diseminada: Reporte de un Caso con Afectación Selectiva de Tallo Cerebral.
Introduction: Acute Disseminated Encephalomyelitis (ADEM) is an autoimmune demyelinating disease of the central nervous system´s white matter; it usually has a monophasic course with an idiopathic cause or following infection or immunization processes.
Objective: This article has the purpose to present a clinical case with selective involvement of brainstem. We describe a 28 year old woman who developed ADEM. Her clinical presentation, neuroradiological findings and treatment are reported.
Conclusions: ADEM is an infrequent disease which can be fatal. MRI findings confirm the diagnosis and steroid therapy appears to be the most effective treatment, although the disease may spontaneously improve.
