INDEX OF SUSPICION

1994 ◽  
Vol 15 (1) ◽  
pp. 39-41
Author(s):  
Dennis J. McCarthy ◽  
Juan J. Jiménez Garcia ◽  
Holly Swanson
Keyword(s):  
Early Diagnosis ◽  
Stage Iv ◽  
External Genitalia ◽  
Tanner Stage ◽  
Breast Development ◽  
Upper Respiratory Infection ◽  
History Of ◽  
Upper Respiratory ◽  
Axillary Hair ◽  
Case Presentations

This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page. We invite readers to contribute case presentations and discussions. Case 1 Presentation As you finish examining a 14-year, 11-month-old girl for an upper respiratory infection, she asks when she might expect to stop growing. When told that most girls stop growing after menarche, she explains that she has never had a menstrual period. On examination, her height is 69 1/2 in (above the 95th percentile) and her weight is 119 lb (50th percentile). Her breast development is at Tanner stage IV, and she says that her breasts have remained at their present state of development for at least 3 years. She lacks both pubic and axillary hair. Her external genitalia are normal, as is the remainder of her physical examination. Case 2 Presentation A 9-year-old girl is brought to your office having a 1-week history of bilateral neck swelling.

INDEX OF SUSPICION

1992 ◽  
Vol 13 (11) ◽  
pp. 435-437
Author(s):  
Summer Smith ◽  
John L. Green ◽  
Susan K Lynch ◽  
Mark J. Polak
Keyword(s):  
Early Diagnosis ◽  
Physical Exertion ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Acting Out ◽  
History Of ◽  
Prolonged Fatigue ◽  
Axillary Hair ◽  
Case Presentations ◽  
Diagnosed Diabetes

This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page. We invite readers to contribute case presentations and discussions. Case 1 Presentation A 17-year-old boy is admitted to the hospital for evaluation and management of recently diagnosed diabetes mellitus. His mother expresses concern about his acting-out behavior and about frequent difficulties in drinking from a glass due to tremors. On examination he is found to be 68.5 inches tall, and he has a mild scoliosis. Evaluation of sexual development reveals axillary hair at Tanner stage III, pubic hair at stage V, penile length of 8 cm, left testicular volume of 3.0 x 1.8 cm, and an undescended right testicle. No breast tissue is palpable. Case 2 Presentation A 16-year-old girl is seen at your office with a history of prolonged fatigue and weakness. She has missed school frequently over the past 4 to 5 months, having had many vague complaints of "no energy," headaches, sore throats, aching knees, and the feeling that she will almost "pass out" if she does gymnastics or physical exertion of any kind.

INDEX OF SUSPICION

1995 ◽  
Vol 16 (3) ◽  
pp. 117-119
Author(s):  
Randy Cron ◽  
Laurette Ho ◽  
Bradley Bradford
Keyword(s):  
Early Diagnosis ◽  
External Genitalia ◽  
Low Grade ◽  
Palpable Mass ◽  
Pelvic Ultrasonography ◽  
Distended Bladder ◽  
Focus Of Infection ◽  
History Of ◽  
Case Presentations ◽  
Free Area

This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page. We invite readers to contribute case presentations and discussions. Case 1 Presentation A previously healthy 6-month-old girl is seen at the office for evaluation of fussiness and infrequent urination. The child has not voided in the past 9 hours despite her usual fluid intake. She is afebrile, with no focus of infection found on careful physical examination. A palpable mass is felt in the suprapubic area. Her external genitalia are normal. Renal and pelvic ultrasonography reveal an echo-free area superior to a normal lower renal ureteral segment on the left side, with a circular echo free area at the lower end of the ureter extending into and taking up about one quarter of the space within a distended bladder. Case 2 Presentation A 4-year-old boy is seen in your office with a 4-day history of sore throat and low-grade fever.

INDEX OF SUSPICION

1994 ◽  
Vol 15 (5) ◽  
pp. 201-203
Author(s):  
Mary D. Dvorak ◽  
Britta Mazur ◽  
A. George Pascual
Keyword(s):  
Early Diagnosis ◽  
Physical Examination ◽  
General Pediatrician ◽  
History Of ◽  
Night Awakening ◽  
Case Presentations

This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page. We invite readers to contribute case presentations and discussions. Case 1 Presentation A 6-day-old girl is brought into the clinic having a 12-hour history of fever to 101°F(38.3°C), irritability, and refusal to breastfeed. The child's mother is a bright, articulate woman who is very concerned about providing the best for this baby, her first, and is dedicated to breastfeeding. She notes that the child previously had been "a very good baby" - quiet, pleasant, and nondisruptive. Since birth, the child has slept for much of the day and night, awakening every 5 to 7 hours to feed. The baby usually wets her diapers after each feeding. However, her mother says that the last wet diaper was noted 6 hours ago, and it was barely wet. Upon physical examination, the child appears quiet but awake.

INDEX OF SUSPICION

1994 ◽  
Vol 15 (12) ◽  
pp. 495-497
Author(s):  
Elliott M. Friedman ◽  
Alexandre T. Rotta ◽  
Vincent J. Menna
Keyword(s):  
Urinary Tract Infection ◽  
Early Diagnosis ◽  
Acute Urinary Retention ◽  
Positive Culture ◽  
Tanner Stage ◽  
Pubic Hair ◽  
The Past ◽  
Hair Development ◽  
Case Presentations ◽  
Similar Episode

This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page. We invite readers to contribute case presentations and discussions. Case 1 Presentation A 13-year-old girl comes to you because it is so painful for her to urinate that she has developed acute urinary retention. Over the past 6 months she has had recurrent mild abdominal cramps; exactly 1 month ago she experienced a similar episode of dysuria. At that time she was able to urinate and was diagnosed by positive culture as having a urinary tract infection, for which she was treated. While preparing to catheterize her, you notice that this young woman is Tanner stage 5 in breast and pubic hair development, yet she states that she has never had a menstrual period. Her mother recalls her own menarche at age 11 years. Observations during the procedure allow you to determine the underlying cause of her problems.

Upper Respiratory Infection

2018 ◽  
Author(s):  
Kenneth Wayman ◽  
Nancy B. Samol ◽  
Eric Wittkugel
Keyword(s):  
Adverse Events ◽  
Anesthetic Management ◽  
Airway Disease ◽  
Upper Respiratory Tract ◽  
Upper Respiratory Infection ◽  
Reactive Airway Disease ◽  
Respiratory Events ◽  
History Of ◽  
Upper Respiratory ◽  
Adverse Respiratory Events

The child with an upper respiratory tract infection presenting for surgery is probably the most common dilemma that faces the pediatric anesthesiologist. While cancellation of such a child’s operation had been a common practice in the past, nowadays, an anesthesiologist will more than likely proceed with the anesthetic management of a child with a mild common cold. Research has shown that while perioperative respiratory adverse events are likely to occur in a child with a mild cold, these events are very easily managed. In addition, the use of a laryngeal mask airway which prevents instrumentation of a child’s airway drastically decreases the incidence of perioperative adverse events in this patient population. Planned airway surgery, history of prematurity, reactive airway disease, and passive smoking in the home are factors that increase the incidence of perioperative adverse respiratory events in a child with an active cold.

INDEX OF SUSPICION

1996 ◽  
Vol 17 (8) ◽  
pp. 291-294
Author(s):  
J. Peter Harris ◽  
Carol J. Buzzard ◽  
Liliana D. Gutierrez ◽  
Franz E. Babl ◽  
Susan K Ratzan
Keyword(s):  
Early Diagnosis ◽  
Good Health ◽  
Left Shoulder ◽  
High School Senior ◽  
Left Chest ◽  
School Senior ◽  
History Of ◽  
Female High School ◽  
Case Presentations ◽  
The Right

This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page. We invite readers to contribute case presentations and discussions. Case 1 Presentation While driving to work, a 17-year-old female high school senior who has been in good health has an abrupt syncopal episode resulting in a headon collision at 40 miles per hour. She is alert and oriented right after the accident, but complains of sternal pain as well as pain in her left chest, left shoulder, and the right side of her jaw. Evaluation in the emergency department reveals slight tachypnea of 26 breaths/min, blood pressure of 90/60 mm Hg, a midsternal abrasion, a left pneumothorax, and nondisplaced fractures of the left clavicle and right mandible. Results of her neurologic examination, including mental status, are normal. She denies the use of any medication, street drugs, or alcohol, but she does report a 9-month history of brief spells of lightheadedness, diaphoresis, nausea, and visual blackouts, with one previous episode proceeding to complete syncope.

scholarly journals An 11-year-old girl with genital ambiguity: a case of non-classical congenital adrenal hyperplasia

2020 ◽  
Vol 10 (3) ◽  
pp. 204-206
Author(s):  
Aleya Ferdush Monni ◽  
Rezwana Sobhan ◽  
Md Faruque Pathan ◽  
Faria Afsana ◽  
Feroz Amin
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Stage Iv ◽  
External Genitalia ◽  
Lower Limbs ◽  
Breast Development ◽  
Growth Spurt ◽  
Normal Female ◽  
Adrenal Hyperplasia ◽  
Excessive Sweating ◽  
Genital Ambiguity

Congenital adrenal hyperplasia (CAH) describes a group of autosomal disorders where there is impairment of cortisol biosynthesis. Here is a case of 11-year-old girl who presented with enlargement of external genitalia, excessive growth of hair in pubis, axilla, face and lower limbs along with growth spurt, excessive sweating and deepening of voice for 4 years. On examination she had normal body habitus, hirsutism (modified Ferriman- Gallwey Score-8), acanthosis nigricans in neck and axillary region, Tanner staging revealed stage-II breast development and stage IV female pattern pubic hair. Genitalia examination showed clitoromegaly with normal labia majora, minora and urethral position. Chromosomal analysis showed a normal female 46XX karyotype with normal uterus and bilateral ovaries on ultrasonography. Serum testosterone was elevated and 17- hydroxyprogesterone (17 OHP) was mildly elevated, raising the suspicion of non-classical congenital adrenal hyperplasia which was confirmed later by performing short Synacthen test. Patient and her parents were counseled regarding the diagnosis and clitoroplasty was done and prednisolone 5 mg daily at night in reverse circadian rhythm started. After 3 months of treatment, her hirsutism significantly reduced and menstruation had begun. Birdem Med J 2020; 10(3): 204-206

scholarly journals Surgical Management of Glaucoma Secondary to Bilateral Acute Iris Transillumination: A Role for Gonioscopy-assisted Transluminal Trabeculotomy

2021 ◽  
Author(s):  
Stephanie Wey ◽  
Jason Flamendorf ◽  
Sapna Sinha ◽  
Daniel Lee
Keyword(s):  
Surgical Intervention ◽  
Cataract Extraction ◽  
Glaucoma Surgery ◽  
Visual Field Defects ◽  
Blurred Vision ◽  
Upper Respiratory Infection ◽  
Keratic Precipitates ◽  
Healthy Female ◽  
History Of ◽  
Upper Respiratory

Purpose: We report a case of bilateral acute iris transillumination (BAIT) in a young woman associated with ocular hypertension which eventually progressed to glaucoma that was treated with gonioscopy-assisted transluminal trabeculectomy (GATT). Case Report: A 37-year-old otherwise healthy female presented with intermittently red and inflamed eyes and blurred vision. She was treated with oral moxifloxacin months prior to presentation. Iris transillumination defects, a pigmented anterior chamber reaction, the absence of keratic precipitates, and a history of upper respiratory infection treated with an oral fluoroquinolone prompted the diagnosis of BAIT. Intraocular pressure (IOP) remained uncontrolled on multiple glaucoma medications. Following the development of new visual field defects, indicating progression to glaucoma, GATT with cataract extraction was performed. Conclusion: Although surgical intervention is rare with BAIT, our case demonstrates that GATT may be used effectively in those patients needing better IOP control before considering incisional glaucoma surgery.

scholarly journals Primary amenorrhea with Swyer syndrome: a rare case report

2020 ◽  
Vol 10 (2) ◽  
pp. 130-132
Author(s):  
Aleya Ferdush Monni ◽  
Md Shafikul Islam ◽  
Md Faruque Pathan ◽  
Feroz Amin ◽  
Faria Afsana
Keyword(s):  
Case Report ◽  
External Genitalia ◽  
Chromosome Analysis ◽  
Interesting Case ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Rare Case Report ◽  
Axillary Hair ◽  
Laparoscopic Removal ◽  
Swyer Syndrome

Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. The diagnosis is usually made at adolescence when primary amenorrhea is investigated. Here is an interesting case report of 18-year-old unmarried girl, who presented with primary amenorrhea and non-development of breasts. Her body built was musculin with broad shoulders, prominent Adam’s apple and deep voice. Examination of her secondary sexual charaistisctcs revealed no breast development, absent axillary hair and sparse pubic hairs with female type of external genitalia. Laboratoryanalyses revealed serum follicle-stimulating hormone and luteinizing hormone levels compatible with hypergonodotropichypogonadism. Pelvicultrasonography showed an infantile uterus and streak gonads. Chromosome analysis revealed 46, XYkaryotype. Laparoscopic removal of streak gonads was done as there is a risk of gonadoblastoma in such cases. The patient was started on hormonal replacement therapy. Swyersyndrome results mainly due to mutation in certain genes such as SRY gene, which leads to failure of development of testis. Birdem Med J 2020; 10(2): 130-132

scholarly journals Heterozygous Deletion in Exons 4-5 of SHOX Gene in a Patient Diagnosed as Idiopathic Short Stature

2017 ◽  
Vol 63 (3) ◽  
pp. 155-158 ◽  
Author(s):  
Anna David ◽  
Imre Zoltán Kun ◽  
Gábor Nyírő ◽  
Zsuzsánna Szántó ◽  
Attila Patócs
Keyword(s):  
Short Stature ◽  
Tanner Stage ◽  
Thyroid Stimulating Hormone ◽  
Idiopathic Short Stature ◽  
Breast Development ◽  
Heterozygous Deletion ◽  
Shox Gene ◽  
Sitting Height ◽  
History Of ◽  
Stage 1

AbstractIntroduction: Isolated Short Stature Homeobox (SHOX) gene haploinsufficiency can be found in 2-15% of individuals diagnosed with idiopathic short stature determining different skeletal phenotypes.Case presentation: We present the history of an 11-year-old female patient diagnosed with idiopathic short stature. Clinically, she was moderately disproportionate, with cubitus valgus and palatum ogivale. Her breast development was in Tanner stage 1 at the time of diagnosis. The endocrine diagnostic tests did not reveal any abnormalities except a slightly elevated thyroid stimulating hormone. We have also assessed the bone radiological findings. Multiplex Ligation-dependent Probe Amplification technique used for the identification of SHOX gene haploinsufficiency showed a heterozygous deletion spanning exons 4-5 of SHOX gene.Conclusions: This case is determined by deletions in exons 4-5 of SHOX gene and indicates the necessity of screening for SHOX deletions in patients diagnosed with idiopathic short stature, especially in children having increased sitting height-to-height ratio or decreased extremities-to-trunk ratio.

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