Cardio-facio-cutaneous syndrome and moyamoya syndrome

We reported a patient with cardio-facio-cutaneous (CFC) syndrome associated with moyamoya syndrome. The patient was referred at 6 years 5 months with left hemiplegia and right-sided eye deviation. He had an apparently short stature, macrocephaly, left ptosis and atopic skin, and was odd looking. He exhibited an incomplete right bundle branch block on electrocardiogram and an atrial septal defect on ultrasound cardiography. He was diagnosed as having CFC syndrome. Head magnetic resonance imaging showed a flow void in the bilateral basal ganglia, but did not show any ischemic changes. Magnetic resonance angiography showed bilateral stenosis with an internal carotid artery at the Willis artery ring level and bilateral moyamoya. Contrast angiography demonstrated occlusion of both middle cerebral arteries. Cerebrovascular anomalies have not previously been reported in CFC syndrome. This is the first case of CFC syndrome associated with moyamoya syndrome.     

Reye syndrome and reye-like syndrome

Reye syndrome is an acute metabolic encephalopathy, largely affecting children and adolescents. In Reye-like syndrome, because of inborn errors of metabolism, hypoglycemia, hypoketonemia, elevated ammonia, and organic aciduria are often evident. It is well-known that fatty-acid oxidation defects can present as Reye-like syndrome. The most commonly diagnosed metabolic disorder in association with Reye syndrome has been medium-chain acyl coenzyme A dehydrogenase deficiency. The present consensus seems to be that Reye syndrome is very rare, and that any child suspected of manifesting this disorder should undergo investigations for inborn errors of metabolism. We recently treated a child with "Reye-like illness" who possibly manifested a long-chain acyl dehydrogenase deficiency, and who had also ingested aspirin. We discuss the possible pathogenesis of the disorder in this child. The end results of mitochondrial dysfunction in Reye syndrome and Reye-like illness may be similar.     

Leigh syndrome associated with West syndrome

Leigh syndrome (LS) (sub-acute necrotizing encephalomyelopathy) is characterized by symmetric brain lesions occurring mainly in the basal ganglia and associated with variable clinical manifestations such as hypotonia, psychomotor retardation, and feeding difficulties. Patients with LS may develop seizures. Only three patients with LS have been identified in the literature as having West syndrome (WS). We have seen 12 children with LS in the past 20 years, and noticed that as many as five of them developed WS. This report discusses five LS children with WS, comparing them with seven LS children without WS. In all five patients, infantile spasms developed after LS had become evident, in addition to other type(s) of seizures. The onset of LS in all the patients with WS was before 10 months of age. Although not statistically proven, early onset of LS, spasticity, nystagmus, apnea, poor feeding, and cardiac problems seemed to be associated with the development of WS. We were not able to conclude that certain types of symptoms or examination results of patients with LS indicated the development of WS. The association of LS with WS did not markedly influence the prognoses of the children. WS may not be a rare complication of LS, especially in infants under 12 months of age. This report is the first review of LS associated with WS.     

Moebius syndrome in Kallmann syndrome.

A girl born with congenital paresis of cranial nerves III, IV, and VII (Moeblus syndrome) subsequently developed a progressive peripheral neuropathy. There was suggestive evidence of a familial neuropathy with autosomal dominant inheritance in three family members. The patient also had hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome).     

Catatonic syndrome and neuroleptic malignant syndrome

Several clinical reports suggest that neuroleptic malignant syndrome (NMS) is not a distinct clinical entity but an acute form of catatonic syndrome (CS). They both share many clinical features and it is impossible to differentiate them on the basis of biochemical findings. Both respond similarly to treatment. The article describes some case reports from the literature and our own case report of NMS as a form of CS.     

Carpal tunnel syndrome and metabolic syndrome

Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy. Many factors such as diabetes mellitus, hypothyroidism, hormonal replacement therapy, corticosteroid use, rheumatoid arthritis and wrist fractures may cause CTS. Metabolic syndrome includes abdominal obesity, dyslipidemia, hyperglycemia, and hypertension that may cause CTS. In this study, we aimed to evaluate the relation between CTS and metabolic syndrome. We studied 107 (96 female and 11 male) right-handed patients who had a clinical and electrophysiologically confirmed diagnosis of CTS. We then divided the patients into two groups (patients with and without metabolic syndrome) according to the criteria of ATP III definition. Eighty (75%) of the patients with CTS had metabolic syndrome. Among the 80 patients with metabolic syndrome, CTS was found in 150 hands (43 mild, 58 moderate and 49 severe cases). Among the 27 patients without metabolic syndrome, CTS was found in 43 hands (27 mild, 14 moderate and 2 severe cases). The electrophysiological parameters (median nerve distal motor latency, median nerve motor amplitude, median nerve motor conduction velocity, median nerve sensory onset latency, median nerve sensory amplitude and median nerve sensory conduction velocity) were worse in patients with metabolic syndrome (P < 0.05). In conclusion, metabolic syndrome was found to be three times more common in patients with CTS and CTS was more severe in patients with metabolic syndrome when compared with those without metabolic syndrome.     

Cobb syndrome and Klippel-Trenaunay-Weber syndrome]

We reported two patients with neurocutaneous angiomatosis. Patient 1, a 36-year-old woman of Cobb syndrome had cutaneous portwine angiomas in the high back and spinal arteriovenous malformations at the level of Th4-11. She had also atrophy and livedo reticularis presenting during standing position in the left lower extremity. Patient 2, a 47-year-old man of Klippel-Trenaunay-Weber syndrome had varices in the bilateral lower extremities, cutaneous portwine angiomas in the high back and bilateral lower extremities, and hypertrophy of the bilateral legs. Neuroradiological examination revealed abnormal vessels in the spinal canal at the level of C5 and Th4. These syndromes may have no essential difference because of the presence of neural and cutaneous angiomas at the corresponding level, venous system disorders and trophic changes (hypertrophy/atrophy).     

Klinefelter syndrome and associated Fragile-X syndrome

ABSTRACT. During screening of male individuals for Fragile-X syndrome in a residential facility for persons with mental retardation, the authors found a 21-year-old profoundly retarded man who displayed facial features and behaviour suggestive of Fragile-X syndrome. The chromosome analysis revealed 47, fra(X)(q27)fra(X)(q27)Y. His physically and intellectually normal sister had 14% of X chromosomes with a fragile site. Her two sons, who were subsequently examined, were found to have Fragile-X syndrome.
Thus, the identification of Fragile-X syndrome in the proband during the screening process of a large institution led to the investigation of the proband's family and the subsequent diagnosis of Fragile-X syndrome in the proband's two nephews. The ascertainment of the two affected boys permitted prompt introduction of early intervention and special education services. Genetic counselling of other at-risk family members was carried out.     

Neuroleptic malignant syndrome or parkinsonism hyperpyrexia syndrome

NMS is a rare and idiosyncratic reaction that occurs with the use of dopamine antagonists or the withdrawal of dopamine agonists from patients with IP. It is a clinical diagnosis based on the presence of parkinsonism and hyperpyrexia in the appropriate pharmacologic setting. If any of these factors is absent, the diagnosis cannot be made. NMS is probably caused by the reduction of dopaminergic activity in the CNS, mainly in the hypothalamus and striatum. Prompt recognition and initiation of supportive and specific therapies optimize survival. Reexposure to neuroleptic drugs, if necessary, is usually possible if done cautiously. Considering that NMS is not solely related to neuroleptics and is less often malignant than not, perhaps the name should be changed to reflect its principal clinical features and underlying pathogenesis. We suggest parkinsonism hyperpyrexia syndrome.     

Bilateral parietal syndrome approximating a Balint syndrome

A patient presented with disorders of saccadic and pursuit movements a wandering gaze, the impossibility to maintain fixation, a concentric shortening of visual attention mainly of the right side, an incomplete right homonymous hemianopia (respecting 10 to 20 degrees), and optical and auditory ataxia predominantly affecting the right hand. Pathology showed a large left parietal glioma in the white matter in the superior and inferior parietal lobes, with microscopic evidence of parietal cortex invasion. A hematoma on the right side was situated entirely parasagitally in the precuneus, approaching the cortex at this level. The two lesions were independent and the splenium was intact. The frontal lobes were normal. A review of nearly 30 cases of bilateral syndrome of the parieto-occipital junction showed that anomalies of visually guided ocular movements were always present. These cases require differentiation from those, such as the present case, which involve mainly a visuomotor coordination disorder and from those with predominant visual disorientation.     

West syndrome evolving into the Lennox-Gastaut syndrome

Eight cases of WS developed electroencephalographic characteristics of the LGS in early childhood. The importance of EEG and clinical followups in patients with the WS for early detection of other associated forms of epilepsy, particularly the LGS, is therefore emphasized.     

Platypnea-orthodeoxia syndrome mimicking postural orthostatic tachycardia syndrome

Clinical Autonomic Research -     

POEMS syndrome (or Crow-Fukase syndrome)

POEMS is an acronym for polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes. POEMS syndrome is also called Crow-Fukase syndrome, chiefly in Japan. The 5 above mentioned features are not always present at the first examination. The minimal criteria to establish the diagnosis are the presence of a demyelinating and axonal polyneuropathy associated with an IgA or IgG monoclonal gammopathy, the light chain being almost always lambda, and at least 2 of the 8 other features: sclerosing plasmocytoma, endocrinopathy, skin changes, organomegaly, Castleman's disease, anasarca, papillary edema or thrombocytosis. Among these features, only cutaneous glomeruloid angioma are specific. Ultrastructural identification of uncompacted myelin lamellae on the peripheral nerve biopsy is also a strong argument in favor of the diagnosis. An associated "osteosclerotic" bone lesion must be carefully searched, because its treatment may improve the other features of the syndrome, especially the neuropathy. Cytokines and the vascular growth endothelial factor might play a role in the pathogenesis of this rare multisystemic disorder.     

West syndrome associated with mosaic Down syndrome

We report a girl with West syndrome associated with mosaic Down syndrome. She had repetitive tonic spasms at 6 months and an electroencephalography (EEG) showed hypsarrhythmia. Her facial appearance was normal and she had no minor anomalies. Her karyotype was mosaic(46,XX/47,XX,+21). Adrenocorticotropin (ACTH) therapy was effective, and her developmental quotient was 76 at 17 months. This report re-emphasize that chromosomal analysis is recommended for epileptic patients with infantile onset when the cause is unclear.     

Carpal tunnel syndrome & cubital tunnel syndrome]

Carpal tunnel syndrome (CTS) and cubital tunnel syndrome (Cub.TS) are the two most common entrapment syndromes. Development of several validated outcome assessments have allowed conducting large scale epidemiological studies worldwide for the last decade regarding CTS, which have been providing reliable basic information. These studies have shown that CTS is more common than had been expected. It is estimated that lifetime risk of acquiring CTS is 10%, the annual incidence is 0.1% among adults, and overall prevalence is 2.7% among the general population. The most common cause is idiopathic inflammation of the flexor tendon sheath induced by activities involving repetitive wrist movement. In contrast, they are not available for Cub.TS and most data are derived from case series or expert opinion, therefore, information concerning Cub.TS is less reliable. In this lecture, the author is trying to offer up-date information of these entrapment neuropathies regarding their pathophysiology, epidemiology, and tips & pitfalls of diagnosis and treatment.