1.
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review.
Hobbs, MM, Wolters, WC, Rayapati, AO
Journal of psychiatric practice. 2020;(1):58-62
Abstract
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the nuclear receptor subfamily 2 group F member 1 (NR2F1) gene. Its common features include optic atrophy and/or hypoplasia, developmental delay, intellectual disability, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, hypotonia, and thinning of the corpus callosum. Mitochondrial involvement has also been described with BBSOAS. Currently, 31 cases of BBSOAS have been described in the literature. Here we report a case of undiagnosed BBSOAS presenting as psychosis in a 32-year-old man with a history of bilateral optic nerve atrophy, intellectual disability, epilepsy, and mitochondrial complex I abnormality on muscle biopsy. Whole-genome sequencing identified a heterozygous de novo nonsense mutation in the NR2F1 gene [c.253 G>T (guanine to thymine mutation in coding position 253) in exon 1, p.E85X variant (GAG>TAG) (glutamic acid to stop codon mutation; protein truncated to 85 amino acids)]. A pathogenic nonsense mutation has not previously been reported in the literature in association with BBSOAS and represents an expansion of clinically relevant variants. Psychosis has also not been previously reported in this syndrome and may represent a phenotypic expansion of BBSOAS, a manifestation of prolonged disease, or a result of disease management.
2.
Neuroleptic malignant syndrome in pregnancy: case report and literature review.
Escobar-Vidarte, MF, Loaiza-Osorio, S, Messa, AA, Macías, GE
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 2019;(14):2438-2441
Abstract
BACKGROUND Neuroleptic malignant syndrome (NMS) is a serious complication associated with the use of drugs that affect dopaminergic system neurotransmission. The occurrence of NMS during pregnancy or gestation is considered a life-threatening obstetric emergency. CASE We are reporting the first case in Latin America of NMS in one pregnant women with acute psychotic episode. One day after starting with antipsychotic therapy, she developed a fever higher than 39.0 °C with tachycardia, tachypnea, generalized muscle rigidity and somnolence, with creatine kinase (CPK) levels evidencing a result of 2800 U/L. She was treated successfully with levetiracetam, biperiden and quetiapine. DISCUSSION A search in PubMed, Embase and Ovid from 1988 to 2016 resulted in seven cases reported in either pregnant or puerperal women. In general, NMS resolves within 3-14 days; most NMS cases reported during pregnancy have involved the use of haloperidol (5 case reports) which is concordant with this report. The obstetric results were good in cases reported, only two women showed signs, among them: hyperemesis gravidarum and preterm delivery. Most of the pregnant women who had NMS presented other associated comorbidities, being mostly of infectious origin. In other investigations, it has been affirmed that NMS can become lethal in adults; however, in our search for pregnant women with this disease, no associated mortality was found. CONCLUSIONS NMS is seen infrequently during pregnancy. The clinical diagnosis requires high suspicion by the examiner. It is important that obstetricians timely recognize the condition.
3.
Clinical Case of the Month: A 48-Year-Old Man With Fever and Abdominal Pain of One Day Duration.
Yu, M, Tadin, D, Conrad, EJ, Lopez, FA
The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society. 2015;(5):237-40
Abstract
A 48-year-old man residing in a mental health department inpatient program with a history of schizoaffective disorder presented to the emergency department with a chief complaint of fever and intense abdominal pain for one day. The patient stated he initially fell in the shower and afterwards experienced back pain. He was transferred to an acute care unit within the facility for further evaluation. The facility physician noted that the patient had a mild temperature elevation and abdominal rigidity on exam. At that time, he was given two doses of benztropine intramuscularly, and transferred to our hospital for further evaluation. The patient exhibited fever, diffuse abdominal pain and a nonproductive cough, but denied chills, dysuria, urinary frequency, hematuria, weakness, diarrhea, melena or hematochezia. He did have a one-week history of constipation for which he was given sodium phosphate enemas, magnesium citrate and docusate sodium, eventually resulting in a bowel movement. He also complained of new onset dysphagia. There were no recent changes to his medications, which included clonazepam, divalproex sodium extended release, olanzapine and risperidone. He denied use of tobacco, alcohol or illicit drugs.
4.
Hypokalemic thyrotoxic periodic paralysis with thyrotoxic psychosis and hypercapnic respiratory failure.
Abbasi, B, Sharif, Z, Sprabery, LR
The American journal of the medical sciences. 2010;(2):147-53
Abstract
Thyrotoxic periodic paralysis is a rare and potentially lethal neuromuscular disease that manifests as recurrent episodic muscle weakness associated with hypokalemia and thyrotoxicosis. Paralysis can rarely involve respiratory muscles leading to acute respiratory failure. The disease primarily affects people of Asian descent, but it is being increasingly reported in other ethnic groups. We review the literature and report a case of hypokalemic thyrotoxic periodic paralysis manifesting as thyroid storm with episodic acute respiratory failure requiring recurrent intubation and eventually requiring thyroidectomy for resolution of symptoms.