Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: new entity?

We present a consanguineous Pakistani family in which four patients (two males and two females) had a new Troyer-like phenotype. All four patients showed some marfanoid features (span more than height, arachnodactyly, high arched palate), and generalized hyper-reflexia. The two affected males and the younger female also had microcephaly and mental retardation. Features only present in the affected males included short stature, dysarthria, amyotrophy of the distal muscles, fasciculations and tremor. The distal muscle wasting in the two affected brothers reflected the presence of axonal neuropathy demonstrated both electrophysiologically and by nerve biopsy. Although neither of the sisters had any degree of distal muscle wasting, both had reduced M-wave amplitude of the tibial and peroneal nerves, bilaterally. The described phenotype does not fit any of the recognized forms of hereditary spastic paraparesis with distal muscle wasting. The specific axonal neuropathy differentiates it from familial motor neuron disease with mental retardation. The reported phenotype represents a possible new Troyer-like syndrome similar to that described by Neuhäuser (1976), but differs from it by the lack of major dysmorphic features.

Pattern of healing of calvarial bone in the rat following application of the erbium-YAG laser.

BACKGROUND AND OBJECTIVE: The aim of this study was to examine the pattern of healing in rat calvarial defects prepared with the erbium-YAG laser, using the "guided tissue regeneration" technique [Dahlin et al., Scand J Plast Reconstr Hand Surg 1990;24: 13-19]. STUDY DESIGN/MATERIALS AND METHODS: PTFE membranes were placed over the lased skull defects and the skin wounds sutured. Rats were killed humanely at intervals after surgery and the skulls processed for paraffin wax histology. A further group of mature rats was killed humanely and the calvariae removed. Slots were prepared using the erbium-YAG laser and immediately examined under the environmental scanning electron microscope (ESEM) in hydrated conditions, which avoided drying artefact. RESULTS: An amorphous, mineral-rich carbon layer surrounds the lased bone defect, which in the in vivo experiments was seen as a basophilic zone that was resistant to resorption. CONCLUSION: Bone infilling of the lased defect was retarded by delayed resorption of the amorphous, mineral-rich carbon layer.

Miller Fisher syndrome: unique involvement of ophthalmic division of trigeminal nerve.

The clinical, electrophysiological, and radiological features of a patient with a typical Miller Fisher Syndrome are reported. The patient has shown a unique affection of the ophthalmic division of the trigeminal nerve. The significance of serial electrophysiological testing particularly blink reflex study is discussed.

Inherited immunoregulatory dysfunction in extrinsic bronchial asthma.

We studied 119 members of 22 asthmatic multiplex families. Included were: 44 parents (seven were asthmatics), 48 asthmatics (23 were undergoing an attack at the time of sampling), and 27 normal siblings. The following investigations were carried out on all subjects: 1) detection of total T lymphocytes, helper cells, and suppressor cells, using monoclonal antibodies (OKT3, OKT4, and OKT8), 2) study of nonspecific T-lymphocyte blast transformation induced by PHA, and 3) HLA-A, B, and DR antigen determination using the microcytotoxicity technique. The results were compared with normal ranges and data for a normal group and statistically and genetically analyzed. They indicate that: 1) the number of T cells was low in asymptomatic asthmatics and normal in asthmatics in attack; 2) there were fewer helper and normal suppressor cells (that is, a low H:S ratio) in asymptomatic asthmatics, and a normal amount of helper and suppressor cells (a normal H:S ratio) in those experiencing an attack; 3) there was a percentage of lymphocyte transformation in both groups of asthmatics; 4) whereas the T-helper cells increased, there was no change in the number of suppressor cells during an attack, which points to deficient function of suppressor cells; 5) the disorder is inherited and the gene controlling this dysfunction is HLA-linked and probably dominant.