scholarly journals Neonatal Cholestasis: A Rare and Unusual Presentation of Pituitary Stalk Interruption Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
R. El Qadiry ◽  
A. Ouayad ◽  
H. Nassih ◽  
A. Bourrahouat ◽  
I. Ait Sab
Keyword(s):  
Case Report ◽  
Hormone Replacement ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Pituitary Hormones ◽  
Unusual Presentation ◽  
Pituitary Stalk ◽  
Endocrine Disorders ◽  
Neonatal Cholestasis ◽  
Rapid Improvement

Pituitary stalk interruption syndrome (PSIS) is a very rare entity, and the clinical manifestations are nonspecific. Neonatal cholestasis due to endocrine disorders is rare and poorly recognized. Our case report describes a case of PSIS in a Moroccan infant revealed by isolated neonatal cholestasis, which is an unusual presentation in children. Case report. A 40-day-old girl was admitted to our department for progressive cholestatic jaundice appeared on the third day of life. She was born from a non-consanguineous marriage, and her prenatal and perinatal history went without incident. Physical examination showed icteric skin and sclera, without hepatomegaly. Analysis of pituitary hormones revealed panhypopituitarism. On brain magnetic resonance imaging (MRI), the pituitary stalk was absent, the posterior pituitary was ectopic, and the anterior pituitary was hypoplastic. The patient was diagnosed with interrupted pituitary stalk syndrome. The treatment consisted of hormone replacement with rapid improvement of her clinical condition. Conclusion. Panhypopituitarism, a consequence of PSIS, is a rare cause of neonatal cholestasis. However, pediatricians should keep this syndrome in mind for patients who present with neonatal cholestasis.

Abstract 1122‐000205: Bilateral ACA Stroke ‐ A Case Report of an Unusual Presentation

2021 ◽  
Vol 1 (S1) ◽  
Author(s):  
Tejeswi Suryadevara ◽  
Bhavya Narapureddy ◽  
Carlos Y Lopez ◽  
Karen C Albright
Keyword(s):  
Case Report ◽  
Brain Magnetic Resonance Imaging ◽  
Whole Body ◽  
Rapid Improvement ◽  
Stroke Registry ◽  
Disconnection Syndrome ◽  
Leg Weakness ◽  
Anatomic Variants ◽  
Computed Tomography Angiogram ◽  
Cerebrovascular Risk

Introduction : Bilateral ACA strokes are rare, with one stroke registry reporting 2 cases out of 1490 strokes (1). These strokes are even less common in the absence of anatomic variants, such as an azygos ACA. Diagnosis may be difficult given the variability in clinical presentation. Methods : This is a case report. Results : A 51‐year‐old right handed man with no cerebrovascular risk factors on no antithrombotic medications presented two hours from last known well with complaints of generalized weakness, inability to speak or move, and feeling numb all‐over during intercourse. He reported rapid improvement in symptoms. Emergency room exam was notable for right leg weakness (3/5) and left leg plegia with intact sensation. Hoover’s sign was positive in the left leg and the patient was able to bear some weight while standing with a two‐person assist. A computed tomography angiogram (CTA) of his head and neck was preliminarily interpreted as normal. No azygos ACA or single internal carotid artery origin for the ACAs were present. His exam improved to an isolated left foot dorsiflexor and plantar flexor weakness. The decision was made not to use thrombolytics based on his symptoms and exam which were improving and not entirely consistent with acute stroke. Brain magnetic resonance imaging demonstrated bilateral parasagittal acute strokes. It was later noted the that non‐contrast head CT demonstrated bilateral hyperdense ACAs. Conclusions : This case demonstrates the difficulty in diagnosing bilateral ACA infarcts in a previously healthy adult in the setting of whole‐body numbness and positive Hoover’s sign. In retrospect, his transient inability to speak or move may have been transient akinetic mutism or callosal disconnection syndrome. Additionally, this case emphasizes the importance of evaluating for the hyperdense ACA sign (2) in patients complaining of bilateral leg weakness.

scholarly journals A Perplexing Case of Pituitary Apoplexy Masquerading as Meningoencephalitis

2021 ◽  
Vol 33 (1) ◽  
pp. 85-88
Author(s):  
Aminur Rahman ◽  
Sharna Purna Mondal ◽  
Muhammed Jamil Ahmed ◽  
Abul Hasnat Md Russel ◽  
Ajay Kumar Agarwala ◽  
...  
Keyword(s):  
Pituitary Apoplexy ◽  
Hormone Replacement ◽  
Clinical Manifestations ◽  
Visual Disturbance ◽  
Pituitary Hormones ◽  
Complete Analysis ◽  
Thyroxine Therapy ◽  
Csf Analysis ◽  
Threatening Condition ◽  
Spontaneous Subarachnoid Hemorrhage

Pituitary apoplexy (PA) is extremely rare in children and adolescents. It is a life-threatening condition usually results from sudden hemorrhage or infarction induced swelling in a pituitary adenoma. The clinical manifestations of PA include severe headaches, impaired consciousness, fever, visual disturbance, and variable ocular paresis. Therefore, the presence of meningeal irritation may lead to misdiagnosis as a case of meningoencephalitis or spontaneous subarachnoid hemorrhage, and delay in the proper management of the disease. We report a case of 17-year-old pubertal boy who developed sudden severe headache, vomiting, slurring of speech and abnormal behaviour followed by impaired sensorium with fever. The patient who was initially diagnosed with meningoencephalitis (ME) based on clinical presentation and cerebrospinal fluid (CSF) analysis, which was consistent with bacterial meningitis. MRI of brain was performed, confirming a pituitary macroadenoma with hemorrhage and ischemic changes in both basal ganglia and pons. A complete analysis of the pituitary hormones revealed decreased cortisol and thyroid hormone level and hyperprolactinemia and he was subsequently started on placement corticosteroid and L-thyroxine therapy and cabergoline. After 14/ days of antimicrobial therapy with ceftriaxone and ampicillin, the patient improved and was discharged on hormone replacement therapy and surgical advised. Hereby, we report our case with a review of literatures. Bangladesh J Medicine July 2022; 33(1) : 85-88

scholarly journals A case of urticaria multiforme with unusual presentation

2019 ◽  
Vol 6 (6) ◽  
pp. 1946
Author(s):  
Mohammad S. Alkhowailed
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Erythema Multiforme ◽  
Case History ◽  
Diagnostic Tests ◽  
Clinical Manifestations ◽  
Unusual Presentation ◽  
Effective Management ◽  
Urticarial Vasculitis ◽  
Wide Range

Urticaria multiforme is a condition which manifests as acute, polycyclic, annular oedematous pink plaques with an ecchymosis hue that is associated with acral edema. The condition is often misdiagnosed as erythema multiforme, serum-sickness-like reactions, or urticarial vasculitis. Author present a case of acute annular urticaria in a 3-year-old girl who presented with unusual clinical manifestations of the condition. Through this case report, Author aim to emphasize the wide range of morphologic manifestations that can be seen in urticaria multiforme. This can assist pediatric physicians to differentiate urticaria multiforme from other clinical dermatologic conditions and prevent misdiagnosis. A detailed case history and physical examination, along with relevant diagnostic tests can enable prompt and effective management of the condition.

scholarly journals POLR3A-related hypomyelinating leukodystrophy: case report and literature review

2020 ◽  
Vol 11 (4) ◽  
pp. 48-54
Author(s):  
A. F. Murtazina ◽  
T. V. Markova ◽  
A. A. Orlova ◽  
O. P. Ryzhkova ◽  
O. A. Shchagina ◽  
...  
Keyword(s):  
Case Report ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Permanent Teeth ◽  
Diagnostic Process ◽  
Compound Heterozygous ◽  
Compound Heterozygous Variants ◽  
First Year Of Life

Hypomyelinating leukodystrophies (HL) is a group of genetically heterogeneous neurodegenerative disorders characterized by a lack of brain myelin deposition. One of the most common autosomal recessive HL is HL type 7 caused by mutations in the POLR3A gene. We reported the first clinical case of a Russian patient with HL type 7.Proband is a 7‑year‑old patient with HL type 7. The diagnosis was confirmed by genealogy, neurological examination, brain magnetic resonance imaging and molecular genetic testing. Two compound‑heterozygous variants in the POLR3A gene were revealed in the patient. Each variant was described earlier in patients with variable clinical manifestations of neurodegenerative diseases. The peculiarities of clinical manifestations in our patient were the manifestation of the disease in the first year of life, the predominance of cerebellar symptoms, a movement limitation of the jaw, leading to worsening of dysarthria, a delay in the formation of permanent teeth and short stature. The course of the disease was moderate that could be explained by different effect of the variants in the POLR3A gene.POLR3A‑related disease is a group of clinically heterogeneous disorders manifesting from early childhood to adulthood and characterized by isolated spastic ataxia or ataxia combined with oligodontia and hypogonadotropic hypogonadism, isolated or complicated spastic paraplegia, as well as a combination of ataxia with extrapyramidal symptoms. Our case report demonstrates the complexity of diagnostic process in the absence of a peculiar clinical picture and specific changes in brain imaging.

scholarly journals Frameshift Mutation in Polar Rich Domain (PRD) of PQBP1 Gene Associated with Asymmetric Cerebellar Hemispheres: A Case Report of Renpenning Syndrome

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Dejan Aleksic ◽  
Milan Borkovic ◽  
Jelena Krivacic ◽  
Igor Petrusic ◽  
Vedrana Milic Rasic
Keyword(s):  
Case Report ◽  
Frameshift Mutation ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Cerebellar Hemisphere ◽  
Mild Intellectual Disability ◽  
Chordae Tendineae ◽  
Nasal Bridge ◽  
First Case ◽  
Midfacial Hypoplasia

Introduction: In 1962, Renpenning et al. published an article with 20 male patients from three generations with mental retardation. Scientists suggested that the syndrome with mutation mapped to the locus Xp11.2-p11.4 should be called Renpenning syndrome. The deletion/duplication of an AG dinucleotide on proximal Xp in the polyglutamine tract-binding protein 1 (PQBP1) gene causing frameshift in the fourth coding exon was identified as the most frequent mutation in this syndrome. Renpenning syndrome with asymmetric cerebellar hemispheres has not been reported previously. Case Presentation: In this case report, we presented an 11-year-old male with mild developmental delay and mild intellectual disability, microcephaly, dysmorphic face, short stature, and seizures. The following morphological abnormalities were detected: a wide nasal bridge, midfacial hypoplasia, short philtrum, low-set ears, low hanging columella, high palate, and narrow face. Neurological examination showed upper and lower extremities hypotonia with joint hypermobility. The patient had his first seizure at the age of seven, and he experienced a total of 10 seizures by the age 11. A systolic murmur of intensity 2/6 was present, and echocardiography showed chordae tendineae abnormalities in the left ventricle. Brain magnetic resonance imaging (MRI) showed asymmetric cerebellar hemispheres (mild right cerebellar hemisphere hypoplasia). A frameshift mutation in the polar reach domain (PRD) of the PQBP1 gene (c.459-462 delAGAG) was detected by exome sequencing. Conclusions: We showed the first case of genetically confirmed Renpenning syndrome in Serbia. Our patient had classical clinical manifestations for Renpenning syndrome as a consequence of frameshift mutation in the PRD of the PQBP1 gene. To the best of our knowledge, according to the literature, this is the first patient with Renpenning syndrome with asymmetric cerebellar hemispheres (mild right cerebellar hemisphere hypoplasia).

scholarly journals Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ying Huang ◽  
Ge Jin ◽  
Qun-ling Zhan ◽  
Yun Tian ◽  
Lu Shen
Keyword(s):  
Case Report ◽  
Clinical Characteristics ◽  
Spherical Inclusion ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
High Signal ◽  
Autonomic Nerves ◽  
Intranuclear Inclusion ◽  
Main Site ◽  
Neuronal Intranuclear Inclusion

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, the clinical manifestations of which are complex and easily misdiagnosed. NIID clinical characteristics are varied, affecting the central and peripheral nervous systems and autonomic nerves. In this study, we present an NIID case with both stroke-like onset and encephalitic attacks, which is a rare case report. Case presentation A 68-year-old Chinese female presented with sudden aphasia and limb hemiplegia as the first symptoms, as well as fever, cognitive impairment and mental irritability from encephalitic attacks. During hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity from diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. Electrophysiological tests revealed the main site of injury was at the myelin sheath in the motor nerves. A skin biopsy revealed eosinophilic spherical inclusion bodies in the nuclei of small sweat gland cells, fibroblasts and fat cells, whilst immunohistochemistry revealed that p62 and ubiquitin antibodies were positive. From genetic analyses, the patient was not a carrier of the fragile X mental retardation 1 (FMR1) permutation, but repeated GGC sequences in the NOTCH2NLC gene confirmed an NIID diagnosis. Through antipsychotic and nutritional support therapy, the patient’s symptoms were completely relieved within 3 weeks. Conclusions This report of an NIID case with both stroke-like onset and encephalitic attacks provides new information for NIID diagnoses, and a comprehensive classification of clinical characteristics.

scholarly journals MANAGEMENT OF CASE OF PRIMARY HYPOTHYROIDISM ON THE PRINCIPLES OF DHATWAGNIMANDYA - A CASE REPORT

2021 ◽  
Vol p6 (1) ◽  
pp. 3258-3261
Author(s):  
Neetu Sharma ◽  
Shalini Rai ◽  
Sisir Kumar Mandal ◽  
Anand More
Keyword(s):  
Case Report ◽  
Symptomatic Relief ◽  
Clinical Manifestations ◽  
Biochemical Parameter ◽  
Thyroid Stimulating Hormone ◽  
Primary Hypothyroidism ◽  
Hormone Deficiency ◽  
Management Approach ◽  
Endocrine Disorders ◽  
Dietary Regimen

Hypothyroidism is a condition caused by thyroid hormone deficiency. It occurs due to hormonal imbalance & decreased metabolism. Clinical manifestations range from no signs or symptoms to life-threatening conditions. In Ayurveda, it corresponds to Dhatvagni Mandya. In this case report the patient presented with puffiness of the face, swelling in both the limbs, muscle (back) pain, loss of appetite, constipation and abnormal weight gain. According to symptomatic presentations, the case was diagnosed as Dhatvagni mandya. Clinical presentation and biochemical parameter i.e., Thyroid Stimulating Hormone (TSH) was 12.07uIU/ml which confirmed the case as Hypothyroidism in modern medicine. The multimodal Ayurvedic management approach incorporating ahara, vihara and aushadha was adopted. The case was treated on the line of principles of Agnimandya. Shaman Chikitsa (pacifying therapy) including internal administration of herbo-mineral formulations such as Arogyavardhini vati, Kanchnaar guggul, Punarnava mandur, Avipattikar churna, Swarna vanga along with a dietary regimen was prescribed to the patient. After 3 months’ treatment, significant symptomatic relief along with reduction of serum TSH level (3.05uIU/ml) without any adverse effects was observed in the patients. It can be inferred from the case that Ayurvedic intervention has enough potential to be employed and utilized in such endocrine disorders. Keywords- Ayurveda, Dhatawagni, Agni, Hypothyroidism, Kanchnar Guggul, Arogyavardhini vati.

scholarly journals Fahr syndrome associated with post-thyroidectomy hypoparathyroidism

2021 ◽  
Author(s):  
Isabela Silva Souza ◽  
Beatriz Cassarotti ◽  
Lucas de Oliveira Pinto Bertoldi ◽  
Alana Strucker Barbosa ◽  
Eduardo Silveira Marques Branco ◽  
...  
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Early Recognition ◽  
Clinical Manifestations ◽  
Endocrine Disorders ◽  
Laboratory Examinations ◽  
The Brain ◽  
Intravenous Calcium ◽  
Fahr Syndrome

Context: Fahr’s syndrome is a rare disorder characterized by bilateral and symmetrical abnormal calcifications in basal ganglia and cerebral cortex. Those calcified deposits are due to changes in calcium and phosphorus metabolisms that can be caused by endocrine disorders, mitochondrial myopathies, dermatological and infectious diseases. Clinical manifestations may include a variety of extrapyramidal, cerebelar and neuropsychiatric syndromes. Case report: This study describes a 75-year-old female patient that underwent total thyroidectomy in 1985 due to a multinodular goiter and presented postsurgical hypoparathyroidism. The patient missed follow-up apppoointments with Endocrinology and stopped treating her parathyroid condition. Some time later, she presented with change in behavior, drowsiness, paraesthesias, limb spasms and seizures. A CT scan of the brain was performed, showing multiple and extensive calcifications reaching the cerebellar hemispheres, basal ganglia, thalamus and white subcortical substance symmetrically. Laboratory examinations revealed hypocalcemia, hyperphosphatemia, and low parathyroid hormone (PTH) levels. Intravenous calcium gluconate was used to corret the Ca/P dysfunction. Additionally, appropriate antiepileptic drugs for seizures were used. She presented with progressive improvement of symptoms after treatment. Conclusions: This case report demonstrates the importance of post- thyroidectomy follow-up and early recognition of Fahr syndrome’s symptoms, which prevents the progression of neurological conditions.

scholarly journals 779 An Unusual Manifestation of Tophaceous Gout in The Flexor Digitorum Superficialis Tendon of An Immunocompromised Patient: A Case Report and Literature Review

2021 ◽  
Vol 108 (Supplement_6) ◽  
Author(s):  
N Glynn ◽  
S Martin ◽  
H Lewis
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Immunocompromised Patient ◽  
High Risk Patient ◽  
Clinical Manifestations ◽  
Unusual Presentation ◽  
Immunocompromised Patients ◽  
Joint Movement ◽  
Tophaceous Gout ◽  
Transplant Patients

Abstract Aim This case report showcases an unusual presentation of tophaceous gout, in an immunocompromised patient. Furthermore, through a literature review, we highlight challenges posed by immunocompromised patients, the clinical manifestations of gout in the hand and principles of management. Method We report the case of a 62-year-old lady with previous liver transplant on immunosuppressants. She was admitted with a left palmar abscess, pyogenic tenosynovitis of the index finger and was taken to theatre for debridement and washout. Superimposed infection was apparent. This originated from an exophytic mass extending from the palm to FDS tendon insertion. This was debulked and histologically confirmed as gout. A review of the literature was performed using key search terms on PubMed relating to manifestations of gout in the tendons of the hand, and in patients on immunosuppression. Results Reports in the literature describe cases of gouty tendinopathy in both flexor and extensor tendons. Reported symptoms include triggering, tendon rupture and tenosynovitis. Gout occurs in a higher frequency in transplant patients. This can be attributed to medications such as cyclosporine which predispose to hyperuricaemia. Management of this condition involves medical optimisation. Despite concurrent problems with wound healing in the immunocompromised with gout, surgical intervention may be required. Indications include superimposed infection, attenuated tendon glide, joint movement, and neuropathy. Perioperative antibiotics are recommended in all immunocompromised patients. Conclusions This case highlights an unusual presentation of gout and the challenges of managing patients on immunosuppressant therapy. A greater awareness of this condition will allow for appropriate management in this high-risk patient cohort.

scholarly journals A case of pituitary stalk interruption syndrome diagnosed in a 2-year-old child masquerading as syndrome of inappropriate antidiuretic hormone secretion

2021 ◽  
Vol 7 (6) ◽  
pp. 312
Author(s):  
Ali Kumble ◽  
Abhishek K. Phadke ◽  
Sapheliya Nazar
Keyword(s):  
Anterior Pituitary ◽  
Wide Spectrum ◽  
Hormone Replacement ◽  
Hormone Secretion ◽  
Clinical Manifestations ◽  
Pituitary Stalk ◽  
Serum Cortisol Level ◽  
Delayed Puberty ◽  
Pituitary Hormone ◽  
Inappropriate Antidiuretic Hormone Secretion

<p class="abstract">Pituitary stalk interruption syndrome (PSIS) is included under the spectrum of midline abnormalities and is considered as a part of the holoprosencephaly (HPE) wide spectrum. Genetic basis has been identified in few familial cases. PSIS have anterior pituitary hormone deficiencies and a wide spectrum of clinical presentation. The typical clinical manifestations of PSIS are growth retardation, hypoglycemia and delayed puberty. We report a case of PSIS with hyponatremic seizures as initial presentation. Two-year-old girl with growth and development appropriate for age, presented with acute respiratory infection and generalized tonic clonic seizures.  There was history of similar illness two weeks prior and was treated for hyponatremia. Child had euvolemic hyponatremia and symptomatic hypoglycemia.  Serum cortisol level was observed to be low and thyroid function test was abnormal. MRI brain showed hypoplastic anterior pituitary and ectopic posterior pituitary (hallmark of PSIS) and absent septum pellucidum. Child was treated with   hormone replacement therapy with hydrocortisone and thyroxine. Child improved and is on follow up. Clinical suspicion, early diagnosis and treatment prevent worsening of endocrine impairment, permanent short stature and associated morbidities with PSIS.</p>

Sign in / Sign up

Export Citation Format

Share Document