[Small fiber neuropathy in a patient with complete Heerfordt syndrome manifesting as refractory facial pain].

We report a case of complete Heerfordt syndrome accompanied by the involvement of small fiber neuropathy (SFN) manifesting as refracory facial pain. A 30-year-old man presented with pyrexia, a 2-week history of facial burning pain, and difficulty of mastication. After admission to our hospital, neurological examinations showed bilateral facial pain, trigeminal motor palsy, left facial nerve palsy, bilateral sensory neural deafness, uveitis and swelling of the parotid gland. Other examinations revealed bilateral hilar lymphadenopathy, high serum titer of angiotensin coenzyme, and no response in a tuberculin-tested, non-caseating epithelioid granuloma from lip biopsy, leading to the diagnosis of complete Heerfordt syndrome. Mandibular skin biopsy with immunostaining for PGP 9.5 showed SFN. High-dose corticosteroids proved somewhat effective against SFN as facial pain, but reducing the corticosteroid dose proved difficult, as symptoms were refractory to other immunosuppressants and pain-control drugs such as anti-epileptics and anti-depressants. The patient died of acute pancreatitis 3 years after disease onset. Autopsy showed no granuloma in hilar lymph node, trigeminal nerve, cranial base, nerve root, and muscle. SFN in this case probably represent a cause of refractory facial pain.

[A case of cervical spondylotic amyotrophy resembling post-polio syndrome].

We reported a 62-year-old man with cervical spondylotic amyotrophy, in whom differentiation from post-polio syndrome was required. At the age of 3, the patient developed acute anterior poliomyelitis that caused muscular atrophy and muscle weakness in the left arm and bilateral lower limbs. At the age of 61, after approximately 58 years of symptomatic stabilization, the patient newly developed muscular atrophy and muscle weakness localized in the triceps muscle of the left arm. Since no sensory disturbance was noted, post-polio syndrome was initially suspected. However, MRI and myelo-CT demonstrated left side compression of the spinal cord at the level of the 6th cervical spine. Therefore, the patient was diagnosed as having cervical spondylotic amyotrophy, and the progression of the disease was prevented by having the patient rest. Since this patient had a history of acute anterior poliomyelitis, the number of anterior horn cells might have been decreased before he developed cervical spondylosis. Therefore, the patient might have shown clinical symptoms of cervical spondylotic amyotrophy mainly consisting of anterior horn disturbance and scarce sensory disturbance.

[Case of zoster sine herpete presenting with dysphagia diagnosed by PCR analysis of VZV DNA in auricular skin exudates].

A 66-year-old woman was admitted to our hospital because of hoarseness and dysphagia after right earache and pharyngalgia. She showed right glossopharyngeal nerve and vagus nerve palsies, but no other neurological deficits. There was no skin rash within the regions of her ear, oral cavity, pharynx and larynx. Slight increase of mononuclear cells was noted in the cerebrospinal fluid. MR brain imaging was normal. We diagnosed her as zoster sine herpete (ZSH) and treated her with acyclovir, after which she almost completely recovered. The examination of antibodies and DNA of varicella zoster virus (VZV) in the serum and cerebrospinal fluid revealed a pattern of previous zoster infection without evidences of reactivation. However, VZV DNA was detected in auricular skin exudates with PCR. We conclude that PCR analysis of VZV DNA in auricular skin exudates can be a useful diagnostic tool for the diagnosis of zoster sine herpete presenting with painful glossopharyngeal nerve and vagus nerve palsies.

Discovery of hydroxamic acid analogs as dual inhibitors of phosphodiesterase-1 and -5.

HTS and the following synthesis of a series of the compounds led us to the discovery of hydroxamic acid analogs as potent dual inhibitors of phosphodiesterase (PDE)-1 and 5. These compounds have highly related structure and deviation of the structure usually resulted in reduced potency. This result can be used to design other molecules that may be utilized for the therapy of cardiovascular symptoms that relates to cGMP level.

Nemaline rods in chorea-acanthocytosis.

In chorea-acanthocytosis, a neurological disorder associated with multisystem degeneration, amyotrophy and peripheral neuropathy are sometimes conspicuous. We describe a patient with chorea-acanthocytosis who showed distributed nemaline rods in biopsied muscle. It has been suggested that in chorea-acanthocytosis, the muscle membranous structures are disordered, and our finding may be attributable to this underlying myopathic condition.

Imaging of bilateral striopallidodentate calcinosis.

Bilateral symmetric striopallidodentate calcinosis, also known as Fahr's disease, is characterized by bilateral calcifications of the basal ganglia, thalami, dentate nuclei of the cerebellum, and the white matter of the cerebral hemisphere. Intracranial calcifications are easily visible as high-density areas on computed tomographic images. On magnetic resonance images, the calcifications exhibit different signal intensities. The differences in signal intensity are thought to be related to the stage of the disease, differences in calcium metabolism, and the volume of the calcium deposit. The moderate reduction of cerebral blood flow in bilateral thalami was also identified using brain SPECT.