hrp0098p3-352 | Late Breaking | ESPE2024

Pediatric hashimoto’s encephalopathy presenting as super refractory status epilepticus

Patil Rohini , Omar Anjumanara , Ahmed Ismail , Wamalwa Phoebe , Oyatsi Donald

Background: Pediatric Hashimoto’s encephalopathy (HE) is a rare, progressive and relapsing steroid- responsive autoimmune encephalitis. Children usually present with subacute cognitive dysfunction, psychiatric symptoms, seizures, and movement disorders associated with elevated thyroid antibodies, specifically thyroid peroxidase (TPO) antibodies. We present a rare pediatric Hashimoto’s encephalopathy with super refractory status epilepticus<p cl...

hrp0094p2-118 | Diabetes and insulin | ESPE2021

Bilateral severe proliferative retinopathy, macular oedema, and lack of macrocytosis in an adolescent male with thiamine-responsive megaloblastic anaemia

Chandwani Manju , Spilioti Diamantina-Xanthi , How-Yaw Stephanie , Yong James , Mathapati Dannaya ,

Thiamine-Responsive Megaloblastic Anaemia (TRMA) is a rare autosomal recessive disorder emerging due to mutation in the thiamine transporter 1 gene. It presents with sensorineural hearing loss, non-immune diabetes mellitus and megaloblastic anaemia. Ocular manifestations of TRMA described so far include optic atrophy and cone-rod retinal dystrophy. This paper presents a case report of a British-Pakistani adolescent boy unexpectedly diagnosed with bilateral severe proliferative...

hrp0095p2-314 | Late Breaking | ESPE2022

A case of permanent congenital hypothyroidism with NKX2-1 mutation and optic nerve thickness

Yang Jaejin , Yeong Chung Woo , Hwan Oh Seung , Hun Seo Go , Rye Kim Jeong , Yu eesuk

Congenital hypothyroidism can be caused by the wrong formation of the thyroid gland or the defect in the synthesis of thyroid hormone. Among the candidate genes, defect in the gene NKX2-1 can be presented as thyroid, lung, or brain dysfunction. An eight-year-old boy was diagnosed as congenital hypothyroidism at the age of 16 days. He was referred to our Pediatric Endocrinology Clinic due to elevated TSH level (36.28uIU/mL). Serum total T3 and free T4 were 125 ng/dL an...

hrp0089p2-p272 | Growth &amp; Syndromes P2 | ESPE2018

Mild Autistic Spectrum Disorder in a 33 Year-old Male Japanese Patient with Temple Syndrome

Yatsuga Shuichi , Kagami Masayo , Matsubara Keiko , Kimura Takuro , Yatsuga Chiho , Mukasa Rio , Matsumoto Takako , Koga Yasutoshi

Introduction: Temple syndrome (TS14) caused by maternal uniparental disomy chromosome 14 (UPD(14)mat), paternal deletions and the imprinting defect affecting the 14q32.2 imprinted region is associated with non-specific symptoms such as growth failure, precocious puberty, obesity, and diabetes mellitus (DM). Some TS14 cases are misdiagnosed as having Prader–Willi syndrome (PWS). In TS14, patient’s intelligence quotient (IQ) is usually normal, and autism spectrum disor...

hrp0086p1-p44 | Adrenal P1 | ESPE2016

An Infant with X-linked Adrenal Hypoplasia Congenita and Xp21 Contiguous Gene Deletion Syndrome

Karaguzel Gulay , Mutlu Mehmet , Cebi Alper , Sahin Sevim , Polat Recep

Background: Contiguous gene syndromes are disorders caused by deletions of genes that are adjacent to one another. It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy (DMD) and intellectual disability. We report the case of a 14-day-old patient with this rare disease.Case report: A 14-day-old newborn was referred to our clinic for scrotal...

hrp0086p1-p249 | Diabetes P1 | ESPE2016

Autoimmune Limbic Encephalitis Associated with Type 1 Diabetes Mellitus

Kilinc Ugurlu Aylin , Doger Esra , Demet Akbas Emine , Akin Onur , Arhan Ebru , Bideci Aysun , Camurdan Orhun , Cinaz Peyami

Background: Limbic encephalitis (LE) is a neurological disorder characterized with amnesia, seizures, personality changes. LE is usually considered as paraneoplastic disorder. Infections, paraneoplastic disorders and autoimmunity should be considered in LE etiology. Association of type 1 diabetes mellitus and LE is very rare. Here in we report a patient who was diagnosed with type 1 diabetes mellitus (T1DM) six months after LE occurrence.Case: A 17-year-...

hrp0086p2-p296 | Diabetes P2 | ESPE2016

Diabetes – a Rare Complication of Ataxic Telangiectasia Presenting in Childhood

Veleshala Sereesha , Bain Murray , Saha Sharvanu , Wei Christina

Case: A South Indian boy diagnosed with ataxic telangectaisa(AT) since aged 5 years (homozygous mutations for ATM gene at C1966A>C and 1968-X.delI), presented with type 2 diabetes (T2DM) aged 15.9 years. There was a 4-week history of polyuria and polydipsia without weight loss. Investigations showed fasting glucose 11.5 mmol/l, insulin 209 pmol/l, HbA1c 103 mmol/mol, negative glutamic acid decarboxylase and islet cell antibodies, and urinary C-peptide 2.84 nmol/mo...

hrp0086p2-p948 | Thyroid P2 | ESPE2016

Kocher-Debre-Semelaigne Syndrome: Hypothyroidism with Muscle Pseudohypertrophy

Bogova Elena , Deryagina Alesya , Shyryaeva Tatyana , Tulpakov Anatoly

Background: Kocher-Debre Semelaigne syndrome (KDSS) is a rare form of myopathy in patients with longstanding moderate-to-severe hypothyroidism.Objective and hypotheses: We present the case of 7-year-old boy who developed muscular pseudohypertrophy, associated with long-term untreated hypothyroidism.Method: A 7-year-old boy presented with growth failure, lassitude and lethargy. He was born small for gestational age at 28 weeks gesta...

hrp0082p1-d2-39 | Bone | ESPE2014

Continuous s.c. Recombinant PTH1–34 Pump Therapy in Congenital Hypoparathyroidism Associated with Malabsorption

Saraff Vrinda , Hogler Wolfgang

Background: Congenital hypoparathyroidism (CH) is a rare disease that usually responds well to conventional therapy with active vitamin D and calcium supplementation. The successful use of continuous s.c. recombinant parathyroid hormone (rhPTH1–34) infusion as a hormone replacement has been demonstrated in cases of CH caused by autosomal dominant hypoparathyroidism or autoimmune polyendocrine syndrome type 1.Objective and hypotheses: We r...

hrp0082p2-d3-495 | Endocrine Oncology | ESPE2014

Early Occurrence of Graves’ Disease After Severe Hypothyroidism in Boy Irradiated for Hodgkin’s Disease

Cantelmi Grazia , Grandone Anna , Luongo Caterina , Affinita Maria Carmela , Micillo Flora , Ficociello Carmine , Indolfi Paolo , Casale Fiorina , Miraglia del Giudice Emanuele , Perrone Laura

Background: Thyroid dysfunction is a well-known endocrine complication after cervical irradiation for Hodgkin’s lymphoma (HL). The most common are primary hypothyroidism (20–30%), central hypothyroidism, transient thyroiditis and thyroid cancer. Graves’ disease (GD) is less frequent (5%).Objective and hypotheses: We describe a boy, already diagnosed with thyroiditis, who developed GD during follow-up for severe hypothyroidism following rad...