| Haddad
syndrome is a rare disorder considered a neurocristopathy, a set of
disease processes characterized by maldevelopment of the neural crests.
Neurocristopathies are a group of diverse disorders resulting from
defective growth, differentiation, and migration of the neural crest
cells. Children with Haddad syndrome present with the combination of
congenital central hypoventilation syndrome (also known as Ondine's
curse), and Hirschsprung's disease (HD). Almost 10% of these cases of
Hirschsprung's disease have total intestinal aganglionosis. The initial
clinical manifestation in the neonatal period is apnea of no
identifiable cause followed by constipation or bowel obstruction.
Strong clinical suspicion, rectal biopsy and genetic mutation detection
makes the diagnosis of Haddad syndrome. Other associated features
includes ophthalmic abnormalities, esophageal dysmotility,
sensorineural hearing loss, neural crest tumors and signs and symptoms
of autonomic nervous system dysfunction. A genetic basis for Haddad
syndrome has been suggested associated with a mutations detection rate
above 90% in chromosome 4p12 PHOX2B gene. Inheritance is autosomal
dominant. Management consist of tracheotomy, home ventilatory support,
TPN, proximal decompressive ostomy and long small bowel
myectomy-myotomy. The prognosis is poor specially in underdeveloped
countries. References: 1- Shahar E, Shinawi M: Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease. Pediatr Neurol. 28(5):385-91, 2003 2- D'Souza S, Khubchandani RP: Haddad syndrome--congenital central hypoventilation associated with Hirschsprung's disease. Indian J Pediatr. 70(7):597-9, 2003 3- Bajaj R, Smith J, Trochet D, Pitkin J, Ouvrier R, Graf N, Sillence D, Kluckow M: Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics. 115(6):e737-8, 2005 4- Dejhalla M, Parton P, Golombek SG: Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease. J Perinatol. 26(4):259-60, 2006 5- Lai D, Schroer B: Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease. J Child Neurol. 23(3):341-3, 2008 6- Otabor IA, Balint JP, Besner GE: Myectomy-myotomy for long segment Hirschsprung's disease in a patient with Haddad syndrome. J Pediatr Surg. 44(3):620-2, 2009 |
| Preschool
children and toddlers enjoy taking things from their hand to their
mouth. This includes disc, button or coin cell batteries with more than
3000 coin cell battery ingestion reported yearly in the United States.
Button batteries are being used with increasing frequency in a variety
of devices including hearing aids, watches and calculators. Most of
these ingested foreign bodies will pass the gastrointestinal tract
without causing harm, but a few will produce a very serious
complication. Such rare complications include esophageal perforation
& stricture, aortoesophageal fistula, gastric perforation,
tracheoesophageal fistula and vocal cord paralysis. The tissue damage
that result from contact with charged battery is a chemical burn caused
by production of sodium hydroxide (cathode) and hydrochloric acid
(anode) generated from electric current passing through physiologic
electrolyte solution. The alkaline burn with liquefaction necrosis, fat
saponification and inflammatory cell infiltration causes the most
severe histologic injury. It's not caused by the content of the battery
or pressure necrosis changes. Coin cell batteries differ from coin
currency in simple x-rays. If the battery impacts in the esophagus or
hypopharynx, emergency endoscopic management is necessary. Once in the
stomach, the battery will usually pass through the gastrointestinal
tract without long-term complications. Its passage can be monitored
with serial radiographs. References: 1- Kost KM, Shapiro RS: Button battery ingestion: a case report and review of the literature. J Otolaryngol. 16(4):252-7, 1987 2- Maves MD, Carithers JS, Birck HG: Esophageal burns secondary to disc battery ingestion. Ann Otol Rhinol Laryngol. 93(4 Pt 1):364-9, 1984 3- Slamon NB, Hertzog JH, Penfil SH, Raphaely RC, Pizarro C, Derby CD: An unusual case of button battery-induced traumatic tracheoesophageal fistula. Pediatr Emerg Care. 24(5):313-6, 2008 4- Hamilton JM, Schraff SA, Notrica DM: Severe injuries from coin cell battery ingestions: 2 case reports. J Pediatr Surg. 44(3):644-7, 2009 5- Litovitz T, Schmitz BF: Ingestion of cylindrical and button batteries: an analysis of 2382 cases. Pediatrics. 89(4 Pt 2):747-57, 1992 |
| Proteus syndrome (PS) is a rare
congenital hamartomatous syndrome that causes sporadic overgrowth of
multiple tissues in a patchy or mosaic pattern. The overgrowth can
involve skin, subcutaneous tissue, connective tissue (including bone),
the central nervous system, and viscera. Complications of PS include
progressive skeletal deformities, plantar gigantism of the hands and
feet, invasive lipomas, benign and malignant tumors, and deep venous
thrombosis with pulmonary embolism. The name Proteus comes from a Greek
mythical sea god who was able to change his body form freely. The
disease process is not usually apparent at birth but develops rapidly
in childhood. Common manifestations include macrodactyly, vertebral
abnormalities, asymmetric limb overgrowth and length discrepancy,
hyperostosis, abnormal and asymmetric fat distribution, asymmetric
muscle development, connective-tissue nevi, and vascular malformations.
Diagnosis and management of the disease depend heavily on clinical
evaluation and imaging using strict criteria. Histopathological
features of lesions resected from children with PS predominantly
include hamartomatous mixed connective tissue lesions, benign neoplasms
such as lipomas, and lymphatic-rich vascular malformations. Potential
complications such as difficult intubation, pulmonary hypertension, and
pulmonary thromboembolism necessitates careful preoperative and
anesthetic preparation. References: 1- Biesecker LG: The multifaceted challenges of Proteus syndrome. JAMA. 285(17):2240-3, 2001 2- Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL: Radiologic manifestations of Proteus syndrome. Radiographics. 24(4):1051-68, 2004 3- Cekmen N, Kordan AZ, Tuncer B, Gungor I, Akcabay M: Anesthesia for proteus syndrome. Paediatr Anaesth. 14(8):689-92, 2004 4- Biesecker L: The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet. 14(11):1151-7, 2006 5- Hoey SE, Eastwood D, Monsell F, Kangesu L, Harper JI, Sebire NJ: Histopathological features of Proteus syndrome. Clin Exp Dermatol. 33(3):234-8, 2008 6- Furquim I, Honjo R, Bae R, Andrade W, Santos M, Tannuri U, Kim C: Proteus syndrome: report of a case with recurrent abdominal lipomatosis. J Pediatr Surg. 44(4):E1-3, 2009 |
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