Common features of the cerebral perforating arteries and their clinical significance.

BACKGROUND: The perforating vessels supply very important regions of the brain stem and diencephalon, as well as the basal ganglia and internal capsule. Some of their micro-anatomical characteristics are still not well known. The aim of this study was to examine and evaluate the features of all the perforating vessels. METHODS: The arteries of 24-32 cerebral hemispheres, diencephalons and halves of the brain stem were injected with India ink mixture or methylmethacrylate, and microdissection was performed or the vascular casts were produced and examined under the sterescopic microscope. RESULTS: It was noticed that the perforators ranged from 0 to 14 in number, with the smallest mean value (1.1) for the diencephalic perforators and the largest one (8.1) for the lenticulostriate arteries. The smallest mean diameter (175 µm) was found in the group of the perforators of the anterior communicating artery, whereas the largest one is related to the Heubner's artery (668 µm), the diencephalic thalamoperforating vessels (562 µm), the premamillary vessel (489 µm) and the lenticulostriate arteries (469 µm). The perforators most frequently originated from the pial branches of the basilar artery (91.7 %) and of the posterior cerebral artery (59.4 %). The common stems were most often formed by the perforators of the basilar (79.2 %), posterior cerebral (75.0 %) and middle cerebral arteries (40.6 %). Some perforators arose close to or from the terminal divisions, the branching sites or the junctions of the parent arteries, where the saccular aneurysms most often develop. The anastomoses among the perforators were present in a range from 6.3 % to 53.2 %. CONCLUSIONS: The micro-anatomical data obtained may be useful for neurosurgeons when operating at the base of the brain, as well as for a neurological and radiological evaluation of the perforators in the occlusive cerebrovascular disease, or in the cases of an aneurysm, arteriovenous malformation (AVM) or tumour presence.

Developmental delay associated with normal thyroidal function and long-term amiodarone therapy during fetal and neonatal life.

We reported a case of a child with neurodevelopment delay induced by long-term amiodarone exposure due to a treatment of fetal supraventricular tachycardia (FSVT), subtype permanent junctional reciprocating tachycardia (PJRT) with the normal thyroidal function. Refractory persistent FSVT was treated intrautero with digoxin (0.5 mg QD) until delivery and amiodarone (100 mg QD) from 26 to 35 weeks of gestation. A baby weighing 3550 g with normal acid-base status was delivered at 38 weeks of gestation. The PJRT recurred 28 hours after delivery and reverted to sinus rhythm with amiodarone and propranolol for another 24 months. The neurological disturbances were manifested at the age of 12 months, when hypotonia and delayed motor milestones were recognised. At the age of 18 months, the child had mildly neurological development delay with hypotonia, ataxia and foot deformities. At the age of 24 months, motor milestones were mildly delayed with the usage of a few words without the ability to connect them into the sentence. The developmental quotient (DQ) was 68. Electroencephalogram and magnetic resonance imaging of the central nervous system were all normal. At the age of 30 months, motor milestones were still delayed together with speech development and language delay, only some words were used, not distinctly, DQ was 78. Thyroid function was normal on each examination. All blood and urine analyses were in normal ranges. Chromosome analysis did not show any abnormalities. Since we excluded all possible reasons, we could only bring an indirect link between the long-term amiodarone exposure during fetal and postnatal life and neurodevelopment delay.

[Analysis of mutations in the chromosome 17p11.2 region in patients with Charcot-Marie-Tooth type 1 disease and in patients with tomaculous neuropathy]. / Analiza mutacija u regionu hromozoma 17p11.2 kod osoba s oboljenjem Sarko-Mari-Tut, tip jedan, i osoba obolelih od tomakulozne neuropatije.

Charcot-Marie-Tooth type 1A disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system associated with duplication and deletion, respectively, of the 17p11.2 segment including the gene of peripheral myelin protein 22. We studied 48 subjects belonging to 29 families with clinical and electrophysiological signs of definite CMT1, 20 patients with suspected CMT phenotype, and 17 patients and healthy members of their families with HNPP. Blood sampling and DNA isolation, PCR, restriction analysis, southern blotting were performed using standard procedures. Of 48 patients with diagnosis of definite CMT1 in 25 (52%) we found a 1.5 Mb tandem duplication in chromosome 17p11.2. These duplications were not found in any of 20 sporadic cases with the clinical phenotype of CMT but without reliable electrophysiological data. Only 13 (44.8%) of 29 unrelated CMT1 patients from the first group had 17p11.2 duplications. Three of 4 sporadic cases (75%) with definite CMT1 had 17p11.2 duplications. Of 17 patients from 6 families with HNPP deletion of 17p11.2 segment was found in 15 (88.2%), as well as in 5 (83.3%) of six unrelated cases. Detection of CMT1A/HNPP recombination hotspot is a simple and reliable DNA diagnostic method, which is useful only for the patients with clinically already verified CMT1, and HNPP for further genetic counselling of patients and members of their families.