This unique critical case, illustrates severe hyperglycemic dehydration, profound electrolyte derangements, and multiple organ failure complicating mixed HHS and DKA.
Historically HHS was differentiated from DKA as a distinct entity, mostly encountered in adult type 2 diabetes. Occasionally diabetic children present in HHS, carry their own risks and require different treatment approaches. In practice, challenging pediatric diabetic patients concomitantly displaying mixed HHS and DKA features can be encountered, mandating higher risk awareness, complications prevention, and corresponding treatment addressing both states.
We report 3 cases of patients with acromegaly in whom surgical treatment did not achieve permanent biochemical control and in whom adjuvant pharmacotherapy with injectable somatostatin receptor ligands (iSRLs) was required but was either refused, poorly tolerated, or resulted in breakthrough symptoms of acromegaly. Therefore, treatment was transitioned to twice-daily oral octreotide capsules (OOC), formulated to enable enhanced absorption of octreotide to therapeutic levels through tight intracellular junctions in the intestine.
Transition to OOC resulted in biochemical control of acromegaly and symptom improvement in all 3 cases. Additionally, the two patients transitioning from iSRLs reported increased treatment satisfaction with OOC compared with their previous therapy. OOC adverse effects were primarily gastrointestinal, including diarrhea, nausea, and bloating, and either subsided after several weeks of OOC treatment or were manageable with dietary changes.
These case reports indicate that OOC may be an effective and tolerable therapy for patients with acromegaly. Moreover, transitioning patients with acromegaly from iSRLs to OOC may increase adherence to adjuvant pharmacotherapy by eliminating painful injections and injection site reactions, decreasing breakthrough symptoms, improving treatment convenience, and increasing patient satisfaction with therapy.
To describe the clinical manifestations, treatment, and prognosis of a patient with type 1 diabetes (T1D) and concurrent diagnoses of painful treatment-induced neuropathy of diabetes (TIND) and restless leg syndrome (RLS).
A 36-year-old man with newly diagnosed T1D experienced the onset of painful lower extremity neuropathy symptoms after a hemoglobin A1C drop from 15% to 6.6% over 1 month upon initiation of insulin pump therapy. His pain was refractory to conventional diabetic neuropathy management, and TIND was diagnosed given the rapid A1C reduction. He was later found to have anemia and diagnosed with concurrent RLS, for which he was treated with carbidopa-levodopa and later pramipexole. Over the course of 18 months, his neuropathic symptoms resolved completely.
TIND and RLS are both small fiber neuropathies with some shared clinical symptoms, including worsening symptoms at night. Sleep disturbance and the urge to move legs are more characteristic of RLS. Rapid A1C lowering, which may occur in patients with newly diagnosed T1D, may provoke TIND, while underlying iron-deficiency anemia is a risk factor for RLS. TIND may be poorly responsive to conventional diabetic neuropathy treatment and may take months to improve or resolve, while RLS is responsive to treatment with dopamine agonists.
TIND should be suspected in T1D patients who have rapid A1C lowering (more than 2% drop in 3 months). In patients with refractory symptoms who have underlying iron deficiency anemia, sleep disturbance, and the urge to move their legs, RLS should be considered in the differential.
In humans, there is considerable individual variability in ethanol metabolism, and these differences have been partially attributed to genetic variability at the ADH locus at 4q22-23, where seven genes are found. They encode ADH enzymes with different kinetic and structural properties that represent the first step in a series of reactions involved in the metabolism and elimination of alcohol from the body. The objective of the study was to identify the potential genetic cause in a patient with congenital metabolic encephalopathy of unknown etiology, and having similarities to fetal alcohol syndrome.
We described a patient of Moroccan origin who suffered from a multisystem disorder compatible with congenital metabolic encephalopathy. The main clinical characteristics observed in the patient were psychomotor retardation, facial dysmorphism, microcephaly, and hematologic and endocrine abnormalities. Whole exome sequencing identified a homozygous missense mutation c.133G > A (p.Gly45Arg) in ADH6, a gene implicated in alcohol metabolism and previously not associated with human disease. The variant segregates well with the disease in the family, affects a highly conserved amino acid and was predicted to be damaging. Bioinformatics analysis revealed that the Gly45Arg substitution may affect the structure and function of the ADH6 protein. No other potential causal gene under an autosomal recessive inheritance model was found.
The patient presented with a congenital metabolic encephalopathy, and having similarities to fetal alcohol syndrome due to prenatal alcohol exposure. The only potential causing variant was identified in the ADH6, belonging to the Class V ADH which is a predominantly fetal alcohol dehydrogenase. In addition, he presented vacuolated lymphocytes, anemia and abnormalities of endocrine function, all have been reported to be related to an abnormal alcohol metabolism.
We identified a novel variant in ADH6, involved in the metabolism of alcohol, in a patient with a hereditary alcohol metabolism encephalopathy syndrome.
The pathogenesis of Graves’ disease (GD) is considered to be an etiologically multifactorial process of external influence on specific genes that are susceptible to the autoimmune reaction stimulating thyroid hormonogenesis. However, the mechanisms underlying gene loci activation in GD remain unknown.
Since GD causes stress, which affects the autonomic nervous system (ANS), the ANS is postulated to be a pivotal link in GD pathogenesis.
In this case study, we analyzed the diagnostic findings of a 40-year-old male patient with GD and evaluated the results of his ANS-focused treatment. We revealed the primary role of the ANS in hyperthyroidism development and the secondary (complementary) role of autoimmune processes in disease development. As illustrated by our patient's case, the factors related to pathogenesis were: (i) the influence of stressors, (ii) the ANS involvement in the regulation of the blood flow intensity and velocity through the thyroid gland, as established by the Doppler ultrasound investigation, (iii) the absence of the effect of anti-thyroid-stimulating hormone (TSH) antibodies on thyroid blood flow, and (iv) thyroid hormonogenesis during the presence of normal anti-TSH antibody levels and almost no TSH.
Genetic predisposition to GD presumably hypersensitizes the ANS to stress, wherein stress readily excites the ANS, resulting in the inadequate overstimulation of the thyroid gland, with or without the involvement of autoimmune processes.
Resistance to thyroid hormone (RTH) syndrome is a rare clinical condition and manifests biochemically as persistent hyperthyroxinemia with unsuppressed thyroid-stimulating hormone (TSH) levels. Amiodarone-induced thyroid dysfunction being reviewed in relation to a co-existing RTH syndrome diagnosis does not exist in the literature as much as we are aware, hence this case report.
A present-day 88-year-old female was reviewed at an endocrinology clinic a decade prior, upon referral by managing cardiologists for an evaluation of abnormal thyroid function test (thyroid Stimulating Hormone (TSH) level of 32 mU/L (reference: 0.4–5 mU/l), free T4 of 13 pmol/L (reference: 9–19 pmol/l) and a free T3 of 5.7 pmol/L (2.4–6pmol/l), complicating amiodarone use in the management of her refractory atrial fibrillation. She had undergone two electrical cardioversions at the time and had a thyroid ultrasound scan (US) revealing a multinodular goitre. Amiodarone was subsequently withdrawn from her treatment by the reviewing endocrinologist at the time. Follow-up care of this patient culminated in a genetic sequence testing that confirmed an underlying RTH diagnosis (heterozygous pathogenic THR beta variant: c.1312C > T p. (Arg438Cys)) in this patient a decade afterward.
In a setting of hyperthyroxinemia and unsuppressed thyroid-stimulating hormone level, RTH syndrome should be suspected. Genetic analysis for this condition should then be suggested. Underlying thyroid conditions should be considered in patients with persistent cardiac arrhythmias. Baseline thyroid function tests should be considered in medications with thyroid side effects.
Several reports showed the likelihood of a relationship between COVID-19 infection and the onset and prognosis of diabetes mellitus (DM) of all types. A 73-year-old female patient who presented to the clinic with respiratory symptoms and was tested positive for COVID-19 and treated for the next three days. Despite having neither a known history of hyperglycemia nor a family history of diabetes, she was unconscious and suffering from polyuria and polydipsia when she was brought to the emergency department. Once her condition was successfully stabilized, she was sent home with COVID-19 medications and oral anti-diabetic therapy. After subsequent viral recovery and continued anti-diabetic medication, the patient was monitored for the following seven months. DM might be linked to the SARS-CoV-2 infection. Further research is necessary to prove a relationship between COVID-19 and newly-onset diabetes.
Thyroid hemiagenesis (TH) is a rare disorder that is usually clinically silent unless associated with other thyroidal pathologies. We present a case of a TH patient with Graves' disease (GD). To our knowledge, this is the first ever case to be reported in Lebanon, and worldwide since 2017.
A 45-years-old woman with GD was investigated for persistent anxiety and tremors. Radiological imaging disclosed the absence of the left thyroid lobe on neck ultrasound along with increased tracer uptake by the right lobe on the thyroid scan, in keeping with toxic right hemithyroid. This is an extremely rare case of thyroid hemiagenesis associated with Graves' disease (THGD).
Clinical examination can help in the diagnosis of TH with the palpation of one thyroid lobe in the presence or absence of an isthmus. However to diagnose THGD, workup requires biochemical testing along with imaging and scintigraphy to compliment the findings of GD in the present lobe. Follow-up visits are very important to make sure that the treatment of choice has been effective and that there has not been any relapse.
THGD is a rare form of thyroid disorders that can be misdiagnosed sometimes. The actual pathophysiology of the disease is still unknown.
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