BACKGROUND: Gitelman syndrome is a rare autosomal recessive disorder that presents in early adulthood with fatigue, muscle cramps and electrolyte abnormalities. CASE: A 17-year-old African-American woman presented at ...BACKGROUND: Gitelman syndrome is a rare autosomal recessive disorder that presents in early adulthood with fatigue, muscle cramps and electrolyte abnormalities. CASE: A 17-year-old African-American woman presented at 17 weeks of pregnancywith nausea, emesis, profound lower extremity proximal muscle weakness, hypokalemia, and hypomagnesemia. After a thorough evaluation, Gitelman syndrome was diagnosed. The patient was maintained on high levels of potassium and magnesium supplementation throughout the rest of her pregnancy and delivered a healthy infant. CONCLUSION: In pregnancy, nausea and emesis is most commonly attributed to hyperemesis gravidarum. However, an atypical presentation of these symptoms and/or the coexistence of less common complaints warrant further investigation.展开更多
Background: Hereditary motor and sensory neuropathy type Ia (HMSN Ia) is known as a primarily demyelinating peripheral nerve disease. Evidence is accumulating that axonal involvement determines the course of the disea...Background: Hereditary motor and sensory neuropathy type Ia (HMSN Ia) is known as a primarily demyelinating peripheral nerve disease. Evidence is accumulating that axonal involvement determines the course of the disease process. Methods: Fifty- one patients were investigated. Physical disability and impairments were scored. Nerve conduction velocities (NCVs) were used as indirect measures for myelination status and compound muscle/sensory nerve action potential (CMAP/SNAP) amplitudes served as indirect measures for axonal function. Results: Median age was 39 years (range 6- 69). Muscle weakness and sensory dysfunction was more severe in the legs than in the arms and distally more than proximally. However, more than 40 % of the patients had proximal muscle weakness in the legs. Three point grip was used as representative of combined distal arm muscle groups. CMAP amplitude was the most important independent variable in a multiple linear regression model (forward selection) to explain the relation between three point grip strength and four different features, i. e., CMAP amplitude of the abductor pollicis brevis, median nerve MNCV, gender, and duration of signs and symptoms. The severity of axonal dysfunction was nerve length- dependent and was related to the myelination status. The mild physical disability due to both muscle weakness and sensory dysfunction was also related to axonal dysfunction. Conclusions: In HMSN Ia, clinical disease severity at the impairment and disability levels is related to the severity of axonal dysfunction. Our data support the hypothesis that the myelination status is one of the factors that determine the extent of axonal dysfunction later in life. Proximal weakness of the legs is encountered in a considerable proportion of our patients.展开更多
文摘BACKGROUND: Gitelman syndrome is a rare autosomal recessive disorder that presents in early adulthood with fatigue, muscle cramps and electrolyte abnormalities. CASE: A 17-year-old African-American woman presented at 17 weeks of pregnancywith nausea, emesis, profound lower extremity proximal muscle weakness, hypokalemia, and hypomagnesemia. After a thorough evaluation, Gitelman syndrome was diagnosed. The patient was maintained on high levels of potassium and magnesium supplementation throughout the rest of her pregnancy and delivered a healthy infant. CONCLUSION: In pregnancy, nausea and emesis is most commonly attributed to hyperemesis gravidarum. However, an atypical presentation of these symptoms and/or the coexistence of less common complaints warrant further investigation.
文摘Background: Hereditary motor and sensory neuropathy type Ia (HMSN Ia) is known as a primarily demyelinating peripheral nerve disease. Evidence is accumulating that axonal involvement determines the course of the disease process. Methods: Fifty- one patients were investigated. Physical disability and impairments were scored. Nerve conduction velocities (NCVs) were used as indirect measures for myelination status and compound muscle/sensory nerve action potential (CMAP/SNAP) amplitudes served as indirect measures for axonal function. Results: Median age was 39 years (range 6- 69). Muscle weakness and sensory dysfunction was more severe in the legs than in the arms and distally more than proximally. However, more than 40 % of the patients had proximal muscle weakness in the legs. Three point grip was used as representative of combined distal arm muscle groups. CMAP amplitude was the most important independent variable in a multiple linear regression model (forward selection) to explain the relation between three point grip strength and four different features, i. e., CMAP amplitude of the abductor pollicis brevis, median nerve MNCV, gender, and duration of signs and symptoms. The severity of axonal dysfunction was nerve length- dependent and was related to the myelination status. The mild physical disability due to both muscle weakness and sensory dysfunction was also related to axonal dysfunction. Conclusions: In HMSN Ia, clinical disease severity at the impairment and disability levels is related to the severity of axonal dysfunction. Our data support the hypothesis that the myelination status is one of the factors that determine the extent of axonal dysfunction later in life. Proximal weakness of the legs is encountered in a considerable proportion of our patients.
