severe hyperparathyroidism (NSHPT) is a very rare autosomal recessive
disease presenting in children during early infancy, usually within the
first six months of life though the majority of cases occur in the
first few weeks. Babies present with signs of hypercalcemia and
hyperparathyroidism including poor feeding, polyuria, dehydration,
lethargy, failure to thrive, hypotonia, gastrointestinal dysmotility,
osteopenia and respiratory distress due to poorly developed chest cage.
Early diagnosis and management of NSHPT is critical due to high
morbidity, mortality and devastating effect to neurodevelopmental
status. Calcium sensing receptors (CASR) are the major sensors of serum
calcium level and have a critical role in maintaining calcium
homeostasis. CARS are present in parathyroid chief cells and epithelial
lining of renal tubules. The human CASR gene maps to 3q13.3. Through
this receptor serum calcium higher than the set point inhibits the
parathyroid hormone release from chief cells preventing renal tubular
reabsorption of calcium. Mutation of the CASR causes loss or gain of
function of the receptor. Heterozygous mutation of CASR results in
familial hypocalciuric hypercalcemia and homozygous loss of function
mutation results in NSHPT due to uncontrollable release of parathyroid
hormone and severe hypercalcemia. Management of NSHPT hypercalcemia
initiates with aggressive hydration and forced diuresis with furosemide
and use of calcitonin which may provide some transient improvement in
heterozygous cases. Homozygous cases do not respond well. Treatment
could be escalated to the use of bisphosphonate therapy and
calcimimetic such as Cinecalcet which is effective in heterozygous
cases. If the child does not respond to medical therapy due to the
homozygous state of the mutation then will require early
parathyroidectomy. Total parathyroidectomy is performed without
autotransplantation due to the high incidence of recurrence of the
disease. Localization of parathyroid glands preoperative using
Sestamibi nuclear scan and MRI influence the surgical approach.
1- Reh CM, Hendy GN, Cole DE, Jeandron DD: Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet. J Clin Endocrinol Metab. 96(4):E707-12, 2011
2- Gannon AW, Monk HM, Levine MA: Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. J Clin Endocrinol Metab. 99(1):7-11, 2014
3- Fisher MM, Cabrera SM, Imel EA: Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. Endocrinol Diabetes Metab Case Rep. 2015;2015:150040. doi: 10.1530/EDM-15-0040. Epub 2015 Jun 18.
4- Murphy H, Patrick J, Baez-Irizarry E, et al: Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia. Eur J Med Genet. 59(4):227-31, 2016
5- Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE: Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat. 16(4):281-96, 2000
6- Atay Z, Bereket A, Haliloglu B: Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet. Bone. 64:102-7, 2014
Inguinal hernia is the common surgical condition in children affecting almost 30% of premature infants. Inguinal hernia results from an incomplete obliteration of the processus vaginalis developed around the 6th month of fetal development. Most inguinal hernia in children are indirect. Incarcerated inguinal hernia is a common and serious emergent situation in pediatric patients. The risk of incarceration in children with inguinal hernia fluctuates between 3 and 16% with the highest incidence of 30% in premature. The rate of inguinal hernia strangulation is also higher in prematurely born infants. The median age of presentation of inguinal hernia is two years. Incarcerated inguinal hernia occurs in 12% of all cases at a mean age of 1.5 years, mostly in boys and mostly on the right side. Due to the significant incidence of incarceration of inguinal hernia, once diagnosed inguinal hernias in children should be repair within the next two weeks. The management of incarcerated inguinal hernia is manual reduction which is successful in most cases, followed by open repair of the hernia in the next 48-72 hours once the edema of the cord has subsided. The procedure can also be done laparoscopically. The advantage of laparoscopic incarcerated inguinal hernia repair include excellent visual exposure, reduction of the incarcerated viscera and inspection for gangrene, immediate repair of the defect, the ability to evaluate the contralateral side, minimal dissection and avoidance of access trauma to the vas deferens and the testicular vessels, iatrogenic ascent of the testis and decreased operative time specially in obese and recurrent cases. The cons are that a subcutaneous procedure is converted into a transabdominal procedure with the incidence of adhesions and later bowel obstruction development. In the case of female patients the possibility of having an incarcerated ovarian inguinal hernia is high. The use of US to determine if an ovary is incarcerated can provide evidence of flow and plan urgent surgery before torsion occurs. Both open herniotomy and laparoscopic repair offer safe surgery with comparable outcomes for incarcerated inguinal hernia in children.
1- Ksia A, Braiki M, Ouaghnan W, et al: Male Gender and Prematurity are Risk Factors for Incarceration in Pediatric Inguinal Hernia: A Study of 922 Children. J Indian Assoc Pediatr Surg. 22(3):139-143, 2017
2- Jun Z, Juntao G, Shuli L, Li L: A comparative study on trans-umbilical single-port laparoscopic approach versus conventional repair for incarcerated inguinal hernia in children. J Minim Access Surg. 12(2):139-42, 2016
3- Yan XQ, Yang J, Zheng NN, Kuang HF, Duan XF, Bian HQ: Treatment for incarcerated indirect hernia with "Cross-Internal Ring" inguinal oblique incision in children. J Res Med Sci. 22:106, 2017
4- Choi KH, Baek HJ: Incarcerated ovarian herniation of the canal of Nuck in a female infant:
Ultrasonographic findings and review of literature. Ann Med Surg (Lond). 9:38-40, 2016
5- Yin Y, Zhang H, Zhang X, Sun F, Zou H, Cao H, Wen C: Laparoscopic surgery in the treatment of incarcerated indirect inguinal hernia in children. Exp Ther Med. 12(6):3553-3556, 2016
6- Chan YY, Durbin-Johnson B, Kurzrock EA: Pediatric inguinal and scrotal surgery - Practice patterns in U.S. academic centers. J Pediatr Surg. 51(11):1786-1790, 2016
spiradenoma is a very rare benign tumor of the skin and subcutaneous
tissue originating from the eccrine glands described by Kersting and
Helwig in 1956. Eccrine spiradenoma (ES) usually appears as a single
bluish/pinkish cystic nodule with size between 0.3 and 5 cm, but in
rare occasions can be multiple distributed as a linear form or
zosteriform. Generally occurs in young adults age 15 to 35 years and
rarely can be found in infants. ES occur mainly in the head, neck and
trunk associated with paroxysmal pain and tenderness. It tends to arise
on the upper part of the body. It is difficult to differentiate eccrine
spiradenoma from other more common lesions and biopsy is necessary to
establish a diagnosis. The pathogenesis is thought to be related to
differentiation mainly of the secretory coil of eccrine sweat glands.
It is important to find epithelial cells, myoepithelial cells and
lymphocytes along with void spaces between blood vessels under the
microscope for diagnostic confirmation. The presence of myoepithelial
cells and phosphorylase demonstrate the eccrine origin of the tumor. ES
may be associated with similar tumors of apocrine origin such as
trichoblastoma and cylindroma. A few cases of malignant changes in
eccrine spiradenoma has been reported very rarely. Malignant changes
may occur if the eccrine spiradenoma lasts long enough and clinically
shows rapid cystic growth pattern. US study reveals a well-demarcated
mass with lobulated contours and does not extend into the
musculi-fascial tissues. Management consists of local excision removing
the tumor completely to avoid recurrence. In cases of incomplete
surgical removal a high risk of local recurrence has been reported.
Early and complete surgical excision is curative in most cases.
1- Kim J, Yang HJ, Pyo JS: Eccrine Spiradenoma of the Scalp.Arch Craniofac Surg. 18(3):211-213, 2017
2- Kwon KE, Kim SJ, Choi HJ, Jung YY, Park NH, Park JY, Baek SH: Sonographic appearance of an eccrine spiradenoma: A case report. J Clin Ultrasound. 2017 Dec 22. doi: 10.1002/jcu.22572.
3- Donaldson K, Scott G, Cantor FK, Patronas NJ, Quezado M, Heiss JD: Eccrine spiradenoma mimicking a painful traumatic neuroma: case report. J Neurosurg. 2017 Oct 27:1-4. doi: 10.3171/2017.5.JNS162999.
4- Son JH, Choi YW, Cho YS, Byun YS, Chung BY, Cho HJ, Kim HO, Park CW: A Case of Eccrine Spiradenoma: A Rarely Seen Soft Tissue Tumor on the Extensor Surface of Arm. Ann Dermatol. 29(4):519-522, 2017
5- Rekhi B, Agarwal A: Cytopathologic features of an unusual case of multiple eccrine spiradenomas misdiagnosed as a malignant round cell tumor. J Cytol. 34(1):39-42, 2017
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