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Lactic acidosis, hypophosphotemia, hypokalemia , tachycardia and ketoneuria. Have right hemidiaphram paralysis. Muscle biopsy showing pleomorphic mitochondria

Suffering from the following symptoms: Intermittant : Lactic acidosis , weakness, hypophosphotemia, hypokalemia , shortness of breath and tachycardia and ketoneuria I have a right hemidiaphram paralysis of unknown origin. I develop severe muscle weakness with every attack. They have ruled out: mitochondrial disorders as the muscle biopsy only showed pleomorphic mitochondria but no other abnormalities, other oddities, ESR is slightly elevated at 28 IGA is normal but right at the edge of low normal Serum cr is normal. EMG shows myopathic tendencies especially in left arm. Acetylcholine receptor studies normal. I also have hypothyroid disease requring 175mcg to control. NO diabetes, no htn, ECHO is clean, EKG is fine, CBC is normal, RA factors negative, Bronchoscopy shows just large airway inflammation but normal otherwise, MRI of head competely normal. I m up for suggestions, my docs are stumped! This is just strange, they know something is wrong, but they can t figure it out........
Asked On : Sun, 8 Jul 2012
Answers:  1 Views:  105
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Pain Medicine & Palliative Care Specialist 's  Response
I can see you have been extensively investigated and on reviewing your symptoms and the test results I would be interested to know whether hypokalemic periodic paralysis has been considered as a diagnosis.
This is a rare inherited condition characterised by low potassium levels and intermittent muscle weakness. Weakness may be mild and limited to certain muscles or may affect the whole body. Attacks may start in adolescence and may be followed by a prolonged period of investigations as the diagnosis is often difficult to confirm.
Not all of your symptoms fit the picture of this condition but I thought you might consider this worth persuing with your specialist. I have managed a number of patients with hypokalemic periodic paralysis on the ICU so have some experience of the condition.
I hope this is of help.
Dr K A Pottinger,
Answered: Thu, 29 Aug 2013
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