Clinico-neuropathological study of incontinentia pigmenti achromians--an autopsy case.

A clinico-neuropathological study of a Japanese girl with hypomelanosis of Ito, one of the neurocutaneous syndromes, is reported. At birth, typical skin hypopigmentation on the trunk and a hypopigmented streak on the left lower extremity were noted. From 2 months of age, intractable convulsions occurred and EEG showed various abnormalities. Psychomotor development was severely retarded and she died of pneumonia at the age of 13 months. Neuropathological examination revealed brachycephaly, micropolygyria and asymmetry of lateral ventricles. A histological examination showed a disarray of cortical lamination, and the existence of nerve cells in the white matter. These pathological findings showed a migration anomaly during brain maturation.

A case of pure word deafness associated with Landau-Kleffner syndrome: a long-term study of auditory disturbance.

A long-term study of auditory disturbance of a female case who had suffered from pure word deafness associated with Landau-Kleffner syndrome was reported. The patient developed this syndrome at age 4, and we continued the follow-up until she reached 20. The following became clear after the investigation: (1) even by the age of 20 her auditory defect had not improved significantly; (2) from an early stage she could not identify either vowels or consonant-vowel syllables; (3) later she had no difficulty identifying vowels, but her consonant-discrimination score hardly improved; and (4) her problem in consonant identification was unique in that she could discriminate between the voiced and voiceless group but had great difficulty identifying the consonants within each group. These findings led to the conclusion that the patient is unable to recognize short time duration consonants due to an insensibility to loudness and a defect in temporal resolution.

[An autopsy case of transcortical motor aphasia].

An autopsy case of transcortical motor aphasia is presented with a pathology located anterior and superior to the pars opercularis of the left inferior frontal gyrus. Case H. Y. A 60-year-old right-handed man. On Nov. 14, 1978, the patient had surgery to remove cerebral hematoma in the left frontal lobe. In the neuropsychological examination before the operation, he had shown the clinical features of transcortical motor aphasia characterized by good comprehension of language, preserved repetition, and spontaneous speech disorder. In this stage, it was supposed that the underlying disturbance of spontaneous speech was due to the disabilities of contextual constructions of sentences rather than the lack of speech initiation. Following the operation, however, spontaneous speech disappeared completely for several days. At the same time, the patient showed problems in comprehension, reading, writing and confrontation naming as well as symptoms of disorientation, pathological inertia and 'loss of initiation' in the psychomotor domain. During the following three months, however, the patient did show slight improvement, except for contextual sentence constructions and pathological inertia when taking the complex animal drawing test. In his terminal stages, the clinical symptoms could be summarized as transcortical motor aphasia and mild frontal lobe syndrome. On March 1, 1979, the patient died of Hamman-Rich syndrome. Postmortem examination: The brain weighed 1294 gm. The external observation of the brain disclosed the linear tissue defect, about 15 mm in length and 10 mm in width, along the radial sulcus of the pars triangularis of the left inferior frontal gyrus.(ABSTRACT TRUNCATED AT 250 WORDS)

[Spontaneous speech disturbances in so called transcortical motor aphasia--comparison of 3 cases with the different lesion sites].

So called transcortical motor aphasia (TCMA) is frequently subdivided, because the clinical features and the localization of the lesions are variable. The authors have been attempting to classify TCMA into three types according to the distribution of the lesions, such as Type F 1, Type F 2 and Type F 3. Case 1 N.S. belongs to Type F 1 showing the clinical features of TCMA with bleeding in the territory of the left anterior cerebral artery. Case 2 M.E. belongs to Type F 2 (published case). This case is similar to Luria's dynamic aphasia in its clinical features and results from the lesions including the posterior parts of left middle frontal gyrus. Case 3 N.T. belongs to Type F 3 who recovered from typical Broca aphasia after language training for four years. The case is similar to Goldstein's Type 1 of TCMA in its clinical features. These three cases are compared with regard to the fundamental bases of spontaneous speech disturbance. The items of comparison are as follows; the volume of speech production and the the time taken to start speech, word fluency test, cue effects necessary for the success of sentence constructions grammatical ability. The results are summerized in Table 2. Type F1 shows the most conspicuous defect of spontaneous speech, but no disturbance in grammatical ability. And when the top word of a sentence (a subject word) is given by the examiner, the patient can construct a structurally correct sentence. These findings imply that the spontaneous speech disturbance of Type F 1 is due to a defect of the starting mechanism of speech.(ABSTRACT TRUNCATED AT 250 WORDS)

[Epileptic vertiginous seizure in a Japanese boy: a case report].

Dizziness in childhood is not an infrequent symptom, but epileptic vertigo is a rare condition in children. Here we report an 8-year-old Japanese boy with epileptic vertiginous seizures. At age 8 years, he visited Nippon Medical School Hospital because of a ten day history of dizziness. The dizziness occurred more than twenty times a day and he was hospitalized. On physical examination, the patient appeared normal and there were no abnormal neurological findings, including eye movement and cerebellar signs. Ophthalmoscopy, otoscopy, vestibular function test and hearing test were normal. Computerized tomography scanning and MR imaging of the head revealed no significant abnormality. The dizziness observed on admission comprised sudden brief attacks of rotatory sensation without amnesia regarding the event. Sometimes the attacks were accompanied by tremor like movement and numbness of the right hand, followed by postictal unsteadiness. Interictal EEG revealed spike-and-wave complexes in the central region dominantly in the light sleep stage. On ictal EEG, seizure discharges were observed to begin in the left central region and they increased in amplitude and subsequently propagated to the frontal and occipital regions. These findings were most suggestive of partial seizures. The patient was treated with carbamazepine and the seizures became well under control.

[Methods of evaluating SPECT images: the usefulness of the Matsuda's method by the Patlak plot method in children].

Single photon emission computed tomography (SPECT) is a tool to study cerebral blood flow (CBF) kinetics. There are three methods of evaluating SPECT images: visual, semi-quantitative (evaluation of the radioactivity ratio of the cerebral region to the cerebellum [R/CE] or to the thalamus [R/TH]) and quantitative (Matsuda's method by Patlak plot method using 99m Tc-hexamethylpropylene amine oxime radionuclide angiography). We evaluated SPECT images by the quantitative method in 14 patients with neurological disorders and examined the correlation of the results to those obtained by the semi-quantitative method. There was no significant correlation between the R/CE or R/TH ratio and regional CBF except two regions. The evaluation by the semi-quantitative method may have been inappropriate, probably because the cerebellar or thalamic blood flow was not constant in each case. Evaluation by the quantitative method, on the other hand, seemed to be useful not only for the comparison of CBF among normal subjects, but also in the demonstration of progressive changes of CBF in the same case. The Matsuda's method by the Patlak plot method is suitable for examination of children, since it dose not require aortic blood sampling.

[A study of idiopathic epilepsy of childhood with occipital electroencephalographic foci].

Twenty five idiopathic epileptic children with occipital electroencephalographic (EEG) foci have been studied for more than 3 years clinically as well as electroencephalographically. They were categorized into two groups, i.e., those with (A group) and without (B group) visual symptoms. Not only visual symptoms, but also headache, nausea, vomiting or generalized tonic clonic convulsion (GTC) were observed in group A. GTC or tonic deviation of the eyes were observed in group B. Migrainous symptoms were present in 3 cases of group A. Interictal EEGs consisted of spikes or spike and wave complexes in the occipital area. In some cases epileptic foci existed not only in the occipital area, but also in other regions. The mean age of the onset of the clinical symptoms was 8 in group A and 5 in group B. Beyond the age of 15, the abnormal EEGs were observed in 80% of the cases in group A, and in 18% of the cases in group B. The symptoms disappeared by 9 years of age in 92% of the cases in group B, and by 15 years of age in 82% of the cases in group A. From these results the prognosis of idiopathic epilepsy of childhood with occipital EEG foci was considered as good.

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3).

A 7-year-old boy with dysmorphic features was found to have a recombinant chromosome 18, rec(18), resulting from meiotic recombination of a maternal pericentric inversion, inv(18) (p11.2q21.3), as defined by high-resolution banding. He was trisomic for the long arm (q21.3-qter) and monosomic for the short arm (p11.2-pter) of chromosome 18. His clinical features were compared with those in other rec(18) cases, and also those in monosomy 18p, trisomy 18qter and full trisomy 18 syndromes. The risk of recombinant formation for inv(18) carriers was also discussed.