Peripheral Neuropathy in Cardiofaciocutaneous Syndrome

American Journal of Medical Genetics Part A, 2005

Many phenotypic manifestations have been reported in cardiofaciocutaneous (CFC) syndrome, but none, to date, are pathognomonic or obligatory. Previous histopathological studies reported findings in skin and hair; no autopsy studies have been published. We report the clinical and autopsy findings of a 7-year-old boy with severe CFC syndrome and malnutrition of psychosocial origin. Manifestations of CFC, reported previously, included macrocephaly and macrosomia at birth; short stature; hypotonia; global developmental delays; dry, sparse thin curly hair; sparse eyebrows and eyelashes; dilated cerebral ventricles; high cranial vault; bitemporal constriction; supraorbital ridge hypoplasia; hypertelorism; ptosis; exophthalmos; depressed nasal bridge; anteverted nostrils; low-set, posteriorly-rotated, large, thick ears; decayed, dysplastic teeth; strabismus; hyperelastic skin; wrinkled palms; keratosis pilaris atrophicans faciei; ulerythema ophryogenes; hyperkeratosis; gastroesophageal reflux; and tracheobronchomalacia. Additional findings, not previously reported, include islet cell hyperplasia, lymphoid depletion, thymic atrophy and congenital hypertrophy of peripheral nerves with onion bulb formations. Although the islet cell hyperplasia, lymphoid depletion, and thymic atrophy are nonspecific findings that may be associated with either CFC or malnutrition, the onion bulb hypertrophy is specific for a demyelinating–remyelinating neuropathy. These findings implicate congenital peripheral neuropathy in the pathogenesis of the developmental delays, feeding difficulties, respiratory difficulties, ptosis and short stature in this case. Additional studies of other cases of CFC are needed. © 2005 Wiley-Liss, Inc.

Practical neurology, 2014

Journal of the Neurological Sciences, 2013

Romanian Journal of Morphology and Embryology, 2022

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European Neurology, 2013

Evaluation and Management of Autonomic Disorders, 2018

A 64-year-old man in the last 4 years has noted a history of slowly progressive nocturnal paresthesia with burning, prickling, and pain in both feet. At that time, a primary care consultation showed body mass index of 31 (obese range), glycemia, and hemoglobin A1c were normal. High serum triglyceride levels = 210 mg/dL, and impaired glucose tolerance test was found. He was advised to do a lifestyle modification (diet and exercise). The patient did not follow medical

Postgraduate Medical Journal, 1990

Maedica - A Journal of Clinical Medicine

We present the case of a 65-year-old female, with no prior medical history, who came to our attention for painful paresthesias involving the distal lower limbs and progressive gait disturbance, accompanied by fatigue, involuntary weight loss, xerophthalmia and xerostomia. Due to a right-sided cervical tumefaction, cervical MRI was performed and revealed an enlarged right parotid gland. Electroneurography confirmed the presence of a chronic sensorimotor axonal neuropathy with active denervation. Blood and urinary samples were collected, highlighting the presence of anti SS-A and SS-B antibodies, with cryoglobulinemia, IgM monoclonal band and kappa light chain monoclonal band. No malignancies were found after extensive workup and bone marrow aspiration was normal. Consequently, a diagnosis of Sjögren syndrome-associated peripheral neuropathy with cryoglobulinemia was established, and after plasma exchange, partial improvement of the patient’s gait was noted.

Pr e sen tat ion of C a se Dr. Caron A. Jacobson (Medical Oncology): A 49-year-old man was admitted to this hospital because of ascites. The patient had been well until approximately 4 years earlier, when paresthesias of both feet, weakness of the lower legs, and bilateral foot drop developed gradually. Three years before admission, he saw a neurologist at another hospital. Laboratory test results, including testing for autoantibodies, were reportedly normal. Electromyography (EMG) reportedly showed prolonged F responses in both feet, normal motor and sensory responses in the distal segments of the arms, and no motor responses in the intrinsic foot muscles. A diagnosis of chronic inflamma-tory demyelinating polyneuropathy (CIDP) was made, and therapy with intravenous immune globulin was begun. Two and a half years before admission, the patient was referred to the neurol-ogy clinic of this hospital. On examination, the Romberg test was markedly abnormal ; there was bilateral foot drop, and the patient was unable to walk on his toes or heels. He was able to sign his name but not without visual control. Strength (on a scale of 0 to 5, where 5 is normal) in the ankle dorsiflexors measured 1 to 2; in the muscles of ankle eversion and inversion, 4−; in the extensor hallucis longus, extensor digitorum brevis, and toe flexors, 0; and in the plantar flexors, 4− to 4. The left hand was mildly weak, particularly the abductor pollicis brevis, and strength was normal in the proximal arms. Deep-tendon reflexes were absent. Perception of vibration was absent in both first toes, decreased in both ankles, and normal at the knees and fingers. Position sense was diminished in both first toes. There was no muscle atrophy or fasciculation, and the remainder of the neurologic examination was normal. As compared with the previous study, EMG and nerve-conduction studies showed decreased sensory responses, absent sural-nerve responses, prolonged F-wave latencies, and more prominent denerva-tion in the tibialis anterior and medial gastrocnemius muscles, features consistent with a demyelinating polyneuropathy. During the next 6 months, weakness in the patient's legs and arms increased, and intermittent stabbing pain in the lower legs developed. Intravenous immune

Clinical Genetics, 2008

Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. Clin Genet 1992: 42: 206-209.