Acute intermittent porphyria (AIP) in a patient with celiac disease
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(2020) 2:2
Neurological Research and Practice
LETTER TO THE EDITOR
Open Access
Acute intermittent porphyria (AIP) in a patient with celiac disease Sebastian Nunnemann* , Christoph Uibel, Petra Budig and Mathias Mäurer
Abstract We present the case of an 18 year old Caucasian with known celiac disease, who suffered a severe first attack of acute intermittent porphyria (AIP) with neuropsychiatric symptoms, severe tetraparesis and respiratory insufficiency. Treatment with heme arginate and high-dose intravenous glucose and rigorous rehabilitation resulted in a slow but almost complete recovery of her motor symptoms. To our knowledge this is the first case of acute intermittent porphyria triggered by malnutrition in the context of celiac disease. It is remarkable that the patient showed a favourable outcome despite the severity of her initial symptoms. This case shows the importance of early and systematic symptomatic treatment in patients with severe neurologic manifestation of AIP. Keywords: Acute intermittent porphyria, Celiac disease, Polyneuropathy, Neurological rehabilitation
Introduction Acute intermittent porphyria (AIP) is an autosomal dominant disorder, caused by an enzyme defect in the heme biosynthesis. Patients with AIP present with acute attacks with abdominal pain or autonomic dysfunctions. Some patients develop neuropsychiatric or neurological symptoms, [1–3]. Here we present a case of AIP in a woman with celiac disease, a combination which has not yet been described in the literature. Case report An 18-year-old Caucasian woman was admitted to our medical department with abdominal pain, vomiting and loss of weight. Clinical and laboratory examinations showed celiac disease with positive gliadin-antibodies. Subsequent adjustment of her diet did not result in a relief of symptoms. Instead she developed neuropsychiatric symptoms and a progressive generalized motor weakness. She was admitted to the neurology department. Brain and spinal cord MRI, CSF analysis and nerve conduction studies did not reveal any pathological findings. Considering the differential diagnosis of acute tetraparesis, we checked the urine for porphyrins and found high concentrations of delta-aminolevulinic-acid * Correspondence: [email protected] Department of Neurology, Klinikum Würzburg Mitte gGmbH, Standort Juliusspital, 97070 Würzburg, Germany
and porphobilinogen. Genetic testing revealed a heterozygous mutation of the exon 9 in the HMBS-gene (Mutation c.517C > T,p.Arg173Trp). We therefore diagnosed an AIP with a severe motor neuropathy. Her medication was adjusted. A treatment with high dose intravenous glucose and heme arginate was started. Despite the treatment the patient deteriorated and needed mechanical ventilation and a tracheostomy. Two weeks after admission she was tetraplegic. Her clinical condition and nerve conduction studies revealed a prominent axonal loss. We repeated the treatment with heme arginate and the patient gradually improved. She got daily physiotherapy, occupational therapy, speech therapy
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