scholarly journals “Slipped capital femoral epiphysis in a 25-year-old hypogonadic man with a large cranial chondroma: causality or coincidence? “

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nadia Sawicka-Gutaj ◽  
Waldemar Woźniak ◽  
Jakub Naczk ◽  
Mateusz Pochylski ◽  
Jacek Kruczyński ◽  
...  
Keyword(s):  
Physical Examination ◽  
Hormonal Therapy ◽  
Laboratory Tests ◽  
Hypogonadotropic Hypogonadism ◽  
Slipped Capital Femoral Epiphysis ◽  
Case Presentation ◽  
Anterior Fossa

Abstract Background Slipped capital femoral epiphysis (SCFE) is a hip disorder frequently occurring in adolescence. In adults it is rare and so far very few cases have been documented. Case presentation This report presents a 25-year-old patient diagnosed with an anterior fossa giant chondroma, hypogonadotropic hypogonadism, and SCFE. The patient underwent surgical and hormonal therapy. His symptoms revealed, and he became a father. Conclusions Every patient diagnosed with SCFE in adulthood should undergo endocrinological assessment based on physical examination and laboratory tests.

scholarly journals Successful Management of Rhabdomyolysis with Acute Infection Resulting from Chronic Sacrococcygeal Pressure Ulcers in a Paraplegic Patient: A Case Report

2020 ◽  
Author(s):  
Kai Huang ◽  
Yansheng Zhu
Keyword(s):  
Physical Examination ◽  
Laboratory Tests ◽  
Pressure Ulcers ◽  
Acute Infection ◽  
Case Presentation ◽  
The Past ◽  
Sacrococcygeal Region ◽  
Skin Sensation ◽  
Life Threatening ◽  
Paraplegic Patient

Abstract Background: Rhabdomyolysis, a potentially life-threatening syndrome, is caused by the breakdown of skeletal muscle cells and leakage of intramyocellular contents into the bloodstream. The treatment of cases with rhabdomyolysis resulting from chronic sacrococcygeal pressure ulcers have been rarely reported.Case presentation: A 62-year-old man suffered from high fever and dark-colored urine. For the past 30 years, the patient has lived with paraplegia, which led to his immobility. According to his physical examination, the wound on his sacrococcygeal region was dehisced and exuded repeatedly with loss of skin sensation. Upon corroboration of a physical examination and laboratory tests, the patient was diagnosed with rhabdomyolysis with an acute infection resulting from sacrococcygeal pressure ulcers. We first debrided the necrotic tissue, and then the chronic ulcer was repaired. The wound dressing was changed frequently, and antimicrobial therapy and nutritional support were included in the treatment. The fever and dark-colored urine were gradually relieved post-operatively. Renal function was also improved according to the typical indicators in laboratory tests. Additionally, the size of the pressure ulcers was reduced, to some extent. The patient was discharged after one month of hospitalization.Conclusions: Accurate diagnosis is critical for clinicians to administer precise treatment to paraplegic patients with progressive rhabdomyolysis.

scholarly journals MR imaging in Kallmann syndrome: a case report

2020 ◽  
Vol 51 (1) ◽  
Author(s):  
Sameera Allu ◽  
Rajani Gorantla ◽  
D. Ankamma Rao
Keyword(s):  
Mr Imaging ◽  
Genetic Disorder ◽  
Hypogonadotropic Hypogonadism ◽  
Kallmann Syndrome ◽  
Imaging Features ◽  
Case Presentation ◽  
Morphological Findings ◽  
Anterior Fossa ◽  
The Brain ◽  
Hormonal Assay

Abstract Background A rare genetic disorder called Kallmann syndrome results from a defect in the neuronal migration of olfactory axons and gonadotropin-releasing hormone neurons. MR imaging helps in confirming the diagnosis of Kallmann syndrome with characteristic morphological findings in the brain, in clinically suspicious cases of hypogonadotropic hypogonadism with anosmia/hyposmia. Case presentation A 15-year-old male teenager presented with complaints of a small penis and anosmia. Hormonal assay of gonadotropins and testosterone revealed low serum concentrations. MRI brain revealed the absence of the olfactory bulbs in the olfactory grooves and hypoplastic olfactory sulcus. With the gonadotropic hormonal assay showing low levels and characteristic MR imaging features of absent olfactory tracts and olfactory sulcus, the diagnosis of Kallmann syndrome was confirmed. Conclusions Morphological abnormalities of olfactory tracts and olfactory sulcus can be accurately depicted with MR imaging through anterior fossa in the coronal plane. Therefore, MR imaging of the brain plays a significant role in diagnosing uncommon Kallmann syndrome and other associated brain abnormalities.

scholarly journals X-linked congenital adrenal hypoplasia: a case presentation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hong Ouyang ◽  
Bo Chen ◽  
Na Wu ◽  
Ling Li ◽  
Runyu Du ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hormone Replacement ◽  
Slipped Capital Femoral Epiphysis ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Case Presentation ◽  
Early Symptoms ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia

Abstract Background Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison’s disease or congenital adrenal hyperplasia (CAH). There was also a significant time difference between the age at which patients developed symptoms and the age at which they were diagnosed with AHC. Most patients showed early symptoms during infantile and juvenile periods, but were diagnosed with AHC many years later. Case presentation We are currently reporting a male patient who developed systemic pigmentation at age 2 and was initially diagnosed with Addison’s disease. At 22 years of age, he experienced a slipped capital femoral epiphysis (SCFE), a disease mostly seen in adolescents aged 8–15 years, an important cause of which is endocrine disorder. Testes evaluated using color Doppler Ultrasonography suggested microcalcifications. Further genetic testing and auxiliary examinations revealed that the patient had hypogonadotropic hypogonadism (HH) and DAX-1 gene disorders, at which time he was diagnosed with AHC complicated by HH. He was given hormone replacement therapy, followed by regular outpatient review to adjust the medication. Conclusions The typical early symptoms of AHC are hyperpigmentation and ion disturbance during infantile and juvenile periods, while few patients with AHC develop puberty disorders as early symptoms. AHC is prone to being misdiagnosed as Addison’s disease, and then gradually develops the symptoms of HH in adolescence. The definitive diagnosis of AHC ultimately is based on the patient’s clinical presentation, laboratory results and genetic testing results.

scholarly journals Primary pulmonary nodular Amyloidosis

2005 ◽  
Vol 63 (3) ◽  
Author(s):  
F. Agresta ◽  
A. Marin ◽  
D. Della Libera ◽  
F. Romanzi ◽  
L.F. Ciardo ◽  
...  
Keyword(s):  
Physical Examination ◽  
Laboratory Tests ◽  
Left Lung ◽  
Solitary Nodule ◽  
Radiological Features ◽  
Video Assisted ◽  
Patient’S History ◽  
Benign Course ◽  
Radiologic Characteristics ◽  
Multiple Nodules

Primary nodular amyloidosis of the lung is an uncommon manifestation. The disease runs a benign course, but offers diagnostic problems due to non-specific radiological features entering the big field of the solitary nodule. We describe the case of a 60 year old man with multiple nodules on the left lung operated on diagnostic and therapeutic video-assisted thoracoscopy and discuss the possibilities, if any, of suspecting such a disease through radiologic characteristics along with findings from the patient’s history, physical examination and laboratory tests.

scholarly journals Recém-nascido com deficiência de glicerol quinase: um caso clínico

2018 ◽  
Vol 28 (3) ◽  
pp. 31385
Author(s):  
Cristina Duarte P. V. G. Madureira ◽  
Cláudia Teles-Silva ◽  
Cláudia Melo ◽  
Susana Gama de Sousa
Keyword(s):  
Emergency Department ◽  
Metabolic Acidosis ◽  
Birth Weight ◽  
Physical Examination ◽  
Laboratory Tests ◽  
Neonatal Period ◽  
Glycerol Kinase ◽  
Glutamic Pyruvic Transaminase ◽  
Glycerol Kinase Deficiency ◽  
Hypernatremic Dehydration

AIMS: To report the case of a newborn with glycerol kinase deficiency, in which an isolated mutation not yet described in the GK gene was identified.CASE DESCRIPTION: A neonate with 10 days of age was brought to the emergency department for refusal to feed with 24 hours of evolution. Physical examination showed a loss of 31% of birth weight and signs of dehydration. Laboratory tests revealed a metabolic acidosis with increased anion gap, creatinine 2.41 mg/dL, urea 306 mg/dL, hypernatremia (182 mEq/L), hyperkalemia (6.8 mEq/L), hyperchloremia (151 mEq/L), glutamic-oxalacetic transaminase 879 U/L, glutamic-pyruvic transaminase 243 U/L, triglycerides 725 mg/dL. Chromotagraphy of organic acids revealed hyperglycerolemia and glyceroluria compatible with glycerol kinase deficiency. The genetic study revealed a mutation not yet described: c.187T> C (p.S63P) as hemizygote status in the GK gene.CONCLUSIONS: The most frequent cause of hypernatremic dehydration in the neonatal period is maternal hypogalactia. In more severe cases of dehydration, other etiologies should be considered, including metabolic causes such as glycerol kinase deficiency. In this case a mutation not yet described in the GK gene was found.

scholarly journals Amyand's hernia and acute appendicitis: Case presentation in Basic Hospital of Chone

2020 ◽  
Vol 4 (2) ◽  
pp. 19-23
Author(s):  
Orelvis Rodríguez Palmero ◽  
Liseidy Ordaz Marin ◽  
María Del Rosario Herrera Velázquez ◽  
Agustín Marcos García Andrade
Keyword(s):  
Abdominal Pain ◽  
Inguinal Hernia ◽  
Acute Appendicitis ◽  
Physical Examination ◽  
Iliac Fossa ◽  
Amyand’S Hernia ◽  
Case Presentation ◽  
The North ◽  
History Of ◽  
The Right

Present the case of a 66-year-old male patient, with a history of right inguinal hernia, who was referred to the emergency room at the IESS de Chone Basic Hospital in the north of the Manabí province, Ecuador, with symptoms of Abdominal pain of more than 24 hours of evolution located in the right iliac fossa and inguinal region on the same side, in the physical examination the hernia was impossible to reduce, so he was taken to the operating room, in the intervention the cecal appendix was found swollen within the hernial sac, a condition known as Amyand's hernia.

scholarly journals Identification of NR0B1 Gene Mutation and Analysis of Bone Damages and Drug Treatment Effect in a Big Family With X-linked Adrenal Hypoplasia Congenita: a Case Report

2021 ◽  
Author(s):  
XIAOHUI TAO ◽  
LI LIU ◽  
XIAOYUN LIN ◽  
TIAN XU ◽  
HUA YUE ◽  
...  
Keyword(s):  
Mass Density ◽  
Hypogonadotropic Hypogonadism ◽  
Clinical Manifestations ◽  
Osteonecrosis Of The Jaw ◽  
Bone Mass Density ◽  
Insertion Mutation ◽  
Case Presentation ◽  
Skeletal Complications ◽  
Adrenal Hypoplasia

Abstract Background: X-linked congenital adrenocortical hypoplasia (XL-AHC) is a rare disorder, which is characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism. However, the skeletal complications caused by the disease were rarely reported, not to mention the treatment.Case presentation: The patient from a big family with XL-AHC was identified carrying a homozygous insertion mutation（p.Thr193GlyfsX13）in DAX-1 gene. The diagnosis of secondary osteoporosis was made after imaging, laboratory and bone mass density examinations. However, he showed a suboptimal response to bisphosphonates during 2 years of follow-up, even suffered from atypical femoral fracture (AFF). Now it had been replaced by menatetrenone, bone healing was satisfactory. Conclusions: We harbored the idea that clinicians should not only focus on typical clinical manifestations of XL-AHC, but also pay attention to the skeletal complications in clinical practice. Conventional anti-osteoporosis drugs may cause side effects such as AFF and osteonecrosis of the jaw (ONJ), which was rare in general osteoporosis patients. In other words, anabolic agent may be a better choice.

Chronic Nonspecific Diarrhea

1996 ◽  
Vol 17 (11) ◽  
pp. 379-384
Author(s):  
Robert H. Judd
Keyword(s):  
Child Care ◽  
Young Child ◽  
Physical Examination ◽  
Bowel Movement ◽  
Laboratory Evaluation ◽  
Gastrointestinal Disorders ◽  
Office Visits ◽  
Case Presentation ◽  
Abdominal Symptoms ◽  
Bowel Movements

Case Presentation A toddler is seen for his 2-year well child examination. His parents are concerned and have received complaints from his child care provider that he has three to four loose, watery bowel movements daily; each bowel movement requires a clean-up and change of clothes. This diarrhea has been present intermittently for at least 6 months. He has a very good appetite, no other abdominal symptoms, and no blood in his stools. His development appears normal. Physical examination is entirely normal, including a weight of 13 kg and height of 90 cm, both at the 75th percentile for age. What additional history is useful, what laboratory evaluation would you perform, and how would you advise his parents? Introduction Gastrointestinal disorders account for approximately 5% of pediatric office visits. Many of these visits are for acute diarrhea that usually is infectious in origin and resolves in fewer than 7 days. Diarrhea in the young child that persists for longer than 3 weeks is termed chronic and can be frustrating and anxiety provoking for both physicians and parents. Through careful clinical assessment, the clinician can separate the majority of patients who require only observation from those who require a limited number of simple tests or those who require extensive testing. Definition

Consultation with the specialist

1992 ◽  
Vol 13 (7) ◽  
pp. 273-274
Author(s):  
Frederick H. Lovejoy
Keyword(s):  
Physical Examination ◽  
Case History ◽  
Laboratory Tests ◽  
Deep Inspiration ◽  
Deep Breathing ◽  
Logical Sequence ◽  
History Of ◽  
Difficult Challenge ◽  
Diagnostic Trial ◽  
Rapid Laboratory

Diagnosing poisoning by an unknown agent can be a difficult challenge. Five strategies of assessment may be used in logical sequence, however, to arrive at a diagnosis: (a) history, (b) physical examination, (c) rapid laboratory tests, (d) diagnostic trial, and (e) screening for toxins. This is illustrated by a case history, followed by discussion of a recommended approach and the utilization of these principles to arrive at a diagnosis in the case. Initial Case History A 41/2-year-old boy, with a history of onset of deep breathing following supper, is brought to your office by his mother. He had been alert and well all day, without fever, fully oriented, and without vomiting or diarrhea. He had been playing both in the house and garage in the morning and had spent the afternoon watching television. His temperature is 37.6°C, respiratory rate is 60 breaths per minute with deep inspiration and expiration, and pulse is 100 beats per minute and regular. He is without cyanosis. His pupils are midpoint, his lungs are clear, and his breath has no noticeable odor. What would you ask the mother in an effort to establish a diagnosis? History An unknown agent often can be suspected by history alone. The location of ingestion, if known, can offer clues.

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