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Journal Article 2005; 26(5): 593-598 PubMed PMID: 16264396 Citation  Keywords:  Adolescent, Adult, Brain:diagnostic imaging, Cerebrovascular Circulation:physiology, Female, Humans, Klinefelter Syndrome:diagnostic imaging, Male, Middle Aged, Radiopharmaceuticals, Skull:diagnostic imaging, Technetium Tc 99m Exametazime, Temporal Lobe:d.   

OBJECTIVES: In patients with Klinefelter syndrome dissocial behaviour, learning difficulties and low intelligence are common. Thus, the aim of our study was to perform brain perfusion studies and cranial cephalometry in 27 cases of Klinefelter syndrome and compare the results with those in a group of 26 healthy subjects.

METHODS: Single photon emission tomography (SPECT) was performed after injection of 20 mCi 99mTc-HMPAO and the data from transaxial slices were analyzed for 46 regions of interest in the cerebellar, thalamic, ventricular and parietal planes. Right/ left ratios were calculated and differences above 10 per cent were considered abnormal. Skull radiographs in frontal and lateral view were taken and measurements of the cerebral part were made.

RESULTS: SPECT imaging in 27 Klinefelter patients revealed 82 hypoperfusion foci, most frequently in temporal regions, less frequently in temporoparietal and frontal regions, whereas only 11 hypoperfusion foci in 6 of the 26 control subjects were found. Skull radiography revealed the following abnormalities : flattening of the temporal regions, reduced width of the vault, shortening of the anterior cranial fossa and definitely reduced angle of the cranial base; all these anomalies differed significantly from those in the skulls of the control subjects.

CONCLUSIONS: The high coincidence of the location on the temporal regions of brain perfusion defects and the neurocranial shape anomalies indicate that an extra X chromosome in Klinefelter patients has detrimental effects on the temporal lobe development and function....

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Case Reports 2005; 26(3): 253-256 PubMed PMID: 15990731 Citation  Keywords:  Breast:pathology, Child, Congenital Hypothyroidism, Female, Humans, Hypothyroidism:complications, Menstruation Disturbances:diagnostic imaging, Ovary:pathology, Pituitary Gland:diagnostic imaging, Puberty, Precocious:diagnostic imaging, Ultrasonography,.   

: Precocious puberty associated with profound hypothyroidism is a rare condition. It is usually characterized by breast development, vaginal bleeding, lack of pubic hair and delayed bone age. Multicystic ovaries in profound hypothyroid patients with precocious puberty have been rarely described. Vaginal bleeding in adolescent girls should be considered as a clinical significance particularly when it is prolonged or heavy, whereas vaginal bleeding in younger girls, regardless of its duration and quantity is always of clinical importance. Bleeding in such patients could be caused by local causes such as vulvar or vaginal lesions, or it could be from the endometrium, which is usually a sign of systemic hormonal disturbance [1]. In this report a rare case of vaginal bleeding, large, multicystic ovaries, precocious puberty and delayed bone age in a 7 years old girl with profound hypothyroidism is described....

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Journal Article 2005; 26(3): 219-224 PubMed PMID: 15990725 Citation  Keywords:  Adolescent, Adult, Cerebral Cortex, Cerebral Ventricles, Choristoma, Electroencephalography, Epilepsy:epidemiology, Evoked Potentials, Somatosensory, Female, Humans, Hydrocephalus:epidemiology, Incidence, Magnetic Resonance Imaging, Median Nerve:physiolog.   

OBJECTIVES: Developmental cerebral dysplasias are frequent causes of epilepsy. The early stage of gestation, mainly the period of neural crest separation and neuroblast migration (disturbance of midline structures, heterotopias, cortical dysplasias and disturbance of the ventricular and vascular formation), may be considered as a cause of serious cerebral dysplasia. The aim of the study was focused on frequent simultaneous occurrences of epileptic seizures and the defect or abnormality of the ventricular system - cavum septi pellucidi (CSP).

MATERIAL AND METHOD: In our study the clinical symptoms, EEG and somatosensory evoked potentials (SEP's) following median nerve stimulation and MRI pictures in the group of patients with CSP (n= 35), were analyzed. In the SEP analysis, a control group of normal, healthy volunteers (n = 40) and a group of age matched patients with epileptic seizures of different origin, without structural lesions evident on MRI (n=21), were used.

RESULTS: Analysis of the patient population with CSP (CSP was confirmed by MRI) showed that approximately in 2/3 cases, different types of cranio-cerebral dysplasias were evident on MRI. More than 2/3 of the patients with CSP showed epilepsy and an abnormal EEG record, however, focal EEG changes were seen more frequently in the group of patients with epilepsy without CSP, than in patients with CSP. The SEP's in patients with CSP showed a statistically significant prolongation of latency of thalamic P15 waves, however these changes were not present in the group of patients with epilepsy of a different origin.

CONCLUSIONS: In a group of patients with CSP, dysplastic MRI changes, together with the prolongation of thalamic wave latencies according SEP, were examined. These clinical symptoms may be considered the result of disturbances of early gestation and of lesions of midline structures. CSP became an interesting model opportunity for us, and allowed for the clinical, MRI and electrophysiological examination of developmental cerebral dysplasias. We believe that there is an important role for septal and diencephalic midline structures in cerebral electrogenesis, and possibly in the origin of epileptic seizures too....

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Case Reports 2005; 26(3): 213-218 PubMed PMID: 15990724 Citation  Keywords:  Adolescent, Adult, Basal Ganglia:pathology, Calcinosis:genetics, Child, Child, Preschool, Czech Republic, Diagnosis, Differential, Dyskinesias:genetics, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Mutation, Pantothenate Kinase-Associa.   

: Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or retinal degeneration and pyramidal signs. The rate of occurence of HSD is thus far unknown. Progress in DNA diagnostics stirred up a nomenclature and from HSD, or, perhaps better put, the Hallervorden-Spatz syndrome, crystallized the pantothenate kinase-associated neurodegeneration (PKAN) as a clearly defined entity on the level of DNA. In this paper, we present our first results and experience in the diagnosis of PKAN in the Czech Republic and discuss questions related to differential diagnosis....

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Case Reports 2005; 26(1): 67-68 PubMed PMID: 15726023 Citation  Keywords:  Adult, Anti-Inflammatory Agents:therapeutic use, Brain:pathology, Female, Humans, Magnetic Resonance Imaging, Methylprednisolone:therapeutic use, Multiple Sclerosis:complications, Thyroiditis, Autoimmune:complications,.   

: Our patient developed Riedel's thyroiditis soon after having an exacerbation of multiple sclerosis (MS). MS has been associated with other autoimmune diseases, including thyroiditis, and both Hashimoto's thyroiditis and subacute thyroiditis have been described in connection with MS. Yet, we are not aware of any other patient reported to have concomitant MS and Riedel's thyroiditis. The association between MS and Riedel's thyroiditis remains obscure but may reflect an autoimmune disorder common to both diseases....

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Journal Article 2005; 26(1): 19-24 PubMed PMID: 15726014 Citation  Keywords:  Adolescent, Age of Onset, Body Height:drug effects, Child, Craniopharyngioma:surgery, Female, Growth Hormone:therapeutic use, Human Growth Hormone:blood, Humans, Hypothalamo-Hypophyseal System:abnormalities, Magnetic Resonance Imaging, Male, Pituitary Dis.   

AIMS: The aim of the study was an evaluation of final height and growth hormone (GH) secretion after completion of GH therapy (retesting) in patients with GH deficiency (GHD).

PATIENTS AND METHODS: The analysis comprised 53 patients (43 boys, 10 girls) with childhood-onset GHD, who completed GH therapy and reached final height. Magnetic resonance imaging (MRI), performed in all the patients, led to the following groups: pituitary stalk interruption syndrome (PSIS), pituitary hypoplasia (HP), craniopharyngioma (CP) -- patients after tumour excision, patients with normal hypothalamic-pituitary region (NP).

RESULTS: In 51 patients, final height was normal. The height gain was significantly (p<0.05) greater in PSIS than in that other groups. In retesting, GH secretion was significantly (p<0.005) lower in PSIS and CP than in HP and in NP and also (p<0.05) in HP than in NP. Permanent severe GHD was confirmed in all the patients with PSIS and CP and in some patients with HP (37.5%), while it was excluded in all the patients with normal pituitary in MRI.

CONCLUSIONS: It seems that in patients with PSIS and CP, the confirmation of persistent character of GHD needs no retesting, while in patients with normal MRI results, GHD diagnosis should be established with special attention....

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Clinical Trial 2004; 25(5): 340-348 PubMed PMID: 15580167 Citation  Keywords:  Adult, Antidepressive Agents:therapeutic use, Brain Mapping, Cerebral Cortex:diagnostic imaging, Cognitive Therapy, Female, Fluorodeoxyglucose F18, Functional Laterality, Humans, Male, Neuropsychological Tests, Panic Disorder:diagnostic imaging, Positron-.   

BACKGROUND: The goal of our study was to identify brain structures in patients with panic disorder (PD) that show changes in 18FDG PET during the treatment with cognitive behavioral therapy (CBT) or antidepressants.

METHOD: Twelve patients suffering from panic disorder were studied with [18F]-2-fluoro-deoxyglucose positron emission tomography (18FDG PET) scanning during resting state (condition of random episodic silent thinking, REST). After PET examination patients were randomly assigned to either cognitive behavioral treatment group (6 patients) or antidepressants treatment group (6 patients). After a 3 month period 18FDG PET examination was repeated in both groups. Psychopathology was assessed using the rating scales HAMA, CGI and Panic Disorder Severity Scale (PDSS). Data were analysed using software for statistical parametric mapping (SPM99).

RESULTS: The scores of psychopathology rating scales (CGI, HAMA, PDSS) decreased in both groups. Changes of 18FDG uptake in the pharmacotherapy group: decreases were found in the a priori hypothesized regions in the right hemisphere, in the superior, middle, medial and inferior frontal gyrus, superior and middle temporal gyrus, and increases were detected in the a priori hypothesized regions, mainly in the left hemisphere in medial and middle frontal gyrus, superior, middle and transverse temporal gyrus. Changes of 18FDG uptake in the CBT group: decreases were found in the a priori hypothesized regions of the right hemisphere in the inferior temporal gyrus, superior and inferior frontal gyrus, and increases were detected in the a priori hypothesized region, mostly in the left hemisphere: inferior frontal gyrus, middle temporal gyrus and insula. We did not detect changes in 18FDG uptake in the limbic region (hippocampus, parahippocampal gyrus and amygdala).

CONCLUSIONS: Changes in brain metabolism (18FDG uptake) after the treatment either with CBT or with antidepressants were similar in number of brain areas, with prominent right-left difference. This is in concordance with the asymmetry of brain activity noted in patients with PD according to previous PET (and SPECT) studies....

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Case Reports 2004; 25(4): 307-309 PubMed PMID: 15361823 Citation  Keywords:  Acromegaly:blood, Empty Sella Syndrome:blood, Female, Growth Hormone:blood, Humans, Magnetic Resonance Imaging, Middle Aged, Octreotide:therapeutic use, Treatment Outcome,.   

: The normal functions of the pituitary gland may be suppressed when the gland is compressed onto the sella floor by arachnoid tissue extending through an impaired sella diaphragm. Interestingly, pituitary hormone hypo- and hypersecretion, including acromegaly, have been observed in patients with an 'empty sella'(1-4). This 'empty sella syndrome' has been classified into a primary form, in which no inciting factor (pituitary irradiation or surgery for a pituitary tumor) is present, and a secondary form, in which the empty sella occurs after pituitary procedures. In this report we describe a patient who presented with clinical and biochemical features of acromegaly and who had an empty sella on pituitary magnetic resonance imaging (MRI)....

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