Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report.

BACKGROUND Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is an autosomal recessive disease caused by thymidine phosphorylase deficiency leading to progressive gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy. Although liver transplantation corrects thymidine phosphorylase deficiency, intestinal deficiency of the enzyme persists. Retrospective chart review was carried out to obtain clinical, biochemical, and pathological details. CASE REPORT We present a case of liver and subsequent intestine transplant in a 28-year-old man with MNGIE syndrome with gastrointestinal dysmotility, inability to walk, leukoencephalopathy, ptosis, cachexia, and elevated serum thymidine. To halt progression of neurologic deficit, he first received a left-lobe partial liver transplantation. Although his motor deficit improved, gastrointestinal dysmotility persisted, requiring total parenteral nutrition. After exhaustive intestinal rehabilitation, he was listed for intestine transplantation. Two-and-half years after liver transplantation, he received an intestine transplant. At 4 years after LT and 20 months after the intestine transplant, he remains off parenteral nutrition and is slowly gaining weight. CONCLUSIONS This is the first reported case of mitochondrial neurogastrointestinal encephalomyopathy to undergo successful sequential liver and intestine transplantation.

Serologic Presentation of Lamotrigine-Induced Lupus.

This paper discusses the presentation of a rare drug side effect, a case of drug-induced lupus presenting with weight loss, weakness, hepatitis, and pancreatitis. A 24-year-old male with a history of major depressive disorder and childhood seizures presented to the ER with symptoms of abdominal pain, significant weight loss, and weakness. Initial workup revealed acute pancreatitis, elevated liver function enzymes (LFTs), and abnormal anti-double-stranded DNA antibody (anti-dsDNA) 1 : 640. He showed no classical clinical signs of lupus including rash, arthritis, or photosensitivity. He had multiple hospitalizations in the previous 6 months for excessive weight loss, malnutrition, weakness, and altered mental status. He had been taking lamotrigine for seizure prevention and mood stabilization while on a selective serotonin reuptake inhibitor (SSRI) and had a decline in health since the lamotrigine dose was increased. Antihistone antibodies were positive suggesting a drug-induced lupus syndrome. We hope to bring awareness to the possible rare complication of lamotrigine-induced lupus.

Chronic inflammatory demyelinating polyradiculoneuropathy secondary to immune checkpoint inhibitors in melanoma patients.

IMPORTANCE: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune neurological disorder that is characterized by symmetrical progressive worsening or relapsing weakness and numbness of the limbs. There are no reliable diagnostic tests or definitive diagnostic criteria, and the diagnosis remains one of excluding other cases of polyneuropathy. Typical treatment for CIDP includes corticosteroids, intravenous immunoglobulin (IVIG), and plasma exchange. Little is known about CIDP as a treatment complication of immune checkpoint inhibitors (ipilimumab and nivolumab). This report will be helpful in increasing awareness and knowledge about this unique entity. OBSERVATIONS: We describe two cases of CIDP secondary to treatment with combined ipilimumab and nivolumab in patients with metastatic melanoma that were successfully treated with prednisone and IVIG. Conclusion and Relevance: This report illustrates that treatment with immune checkpoint inhibitors can lead to CIDP that can be successfully treated with complete resolution of symptoms. CIDP secondary to checkpoint inhibitors may have unique features such as low-grade lymphocytic pleocytosis on CSF evaluation as well as severe neuropathic pain as an early presenting symptom. Additionally, it is interesting to note that both patients presented in this report remained melanoma-free on follow-up more than 16 months later.

A case of natalizumab-associated progressive multifocal leukoencephalopathy with repeated negative CSF JCV testing.

The development of progressive multifocal leukoencephalopathy (PML) in patients treated with natalizumab is a well-known potential risk. Diagnosis of PML can be confounded in patients with multiple sclerosis (MS) if new demyelinating lesions develop, and the sensitivity of existing diagnostic tests is less than ideal. In the case presented here, four samples of cerebrospinal fluid tested negative for John Cunningham virus (JCV) DNA by polymerase chain reaction, yet brain biopsy eventually proved positive by immunohistochemistry. A review of the limitations of existing clinical diagnostic tests is addressed, and we review the most recent literature on the proper management of natalizumab-treated MS patients.

Acute painful neuropathy (insulin neuritis) in a boy following rapid glycemic control for type 1 diabetes mellitus.

We report a case of acute, painful polyneuropathy in a boy with newly diagnosed type 1 diabetes mellitus associated with a precipitous drop in hemoglobin A1c. After initiation of insulin, the patient's hemoglobin A1c dropped from 14.1 to 7.6%, and he developed severe pain in his feet, which prevented him from walking. Nerve conduction studies were consistent with mild to moderate sensorimotor peripheral neuropathy. Initially, he required opiate analgesics for pain control. Three months after presentation, the patient showed dramatic improvement and regained his ability to walk. Although not well described in the pediatric literature, this case represents insulin neuritis, one of the few diabetic neuropathies that has a favorable outcome.