Lesch-Nyhan syndrome: a treatment planning dilemma

Department of Pediatric Dentistry

Lutheran Medical Center

Date: 06/12/2009

Article title: Lesch-Nyhan syndrome: a treatment planning dilemma

Author(s): Joseph L Dicks

Journal: Pediatric Dentistry

 Volume (number): vol 4 num 2

 Month, Year: 1982

Major topic: Lesch-Nyhan syndrome

 Minor topics: 

Type of Article:  Case Review

Main Purpose: Review implications of Lesch-Nyhan syndrome and treatment of patient’s with this syndrome. 

Overview of method of research:   Case Review, Review of Literature

Findings:  

Self mutilative behavior, especially associated with the mouth makes these patients a particular challenge for dentists.

Key points/Summary :

Cause is an inheritable error of purine metabolism, in males only

Large amounts of uric acid build up, leading to renal failure if untreated

Presents as mental retardation and self mutilative behavior, which does not improve with treatment

All have cerebral palsy with sever spasticity.

Usually mutilative behavior starts with the eruption of teeth and all perioral structures are soon destroyed

Often these patients are relaxed when restrained.

There is not much in the dental literature about this syndrome (at in 1982)

In some cases, offending teeth are extracted under LA and restraint

Extremely destructive cases will have all teeth extracted to limit mutilative risks

Sometimes periods of mutilative remission will fool clinicians into delaying treatment of dangerous teeth.  

Although radical, usually full mouth extraction is the only choice in mutilative cases. 

In mild cases, a soft splint has been used with some success

3 catagories of the syndrome

cat 1: no oral self-mutilative or biting behavior, most rare form

cat 2: some oral self-mutilative tendencies, but can be controlled with restraint

cat 3: severe, attempt to make mouth guard, if not, full mouth extraction under GA is best.

Assessment of article:  I’ve never seen a patient with this syndrome, but it is very interesting and would be heart-breaking to treat. 

The spectrum of dental manifestations in vitamin D-resistant rickets: implications for management

Department of Pediatric Dentistry

Lutheran Medical Center

 

Resident’s Name:  Chad Abby                                    Date: 3/20/2009

Article title:  The Spectrum of Dental Manifestations in Vitamin D-resistant Rickets:  Implications for Management

Author(s):  W. Kim Seow, S.C. Latham

Journal:  Pediatric Dentistry

 Volume (number): Vol. 8, No. 3

Month, Year:  1986

Major topic:  Rickets

 Minor topic(s):  Implications for management in vitamin D-resistant rickets (VDRR)

Type of Article:  literature review

Main Purpose:  To provide guidelines in the prevention of dental abscesses in the VDRR patient and to determine whether varying degrees of dental manifestations appear

Methods:  Thirteen patients were used in this study and they were divided into 3 main grades depending on their dental manifestations and the need for treatment and prevention of dental abscesses.

Findings:  Grade 1 is comprised of patients who show minimal or no dental manifestations of VDRR.  These patients only require routine dental care and preventative measures.  Grade 2 patients are those who show moderate dental manifestation of the disease, only a few teeth are involved, and the prophylactic procedures required moderate.  Grade 3 is comprised of patients who show severe dental manifestations of the disease and require extensive treatment and aggressive prophylactic measures to prevent the development of dental abscesses.  Besides prophylactic coverage to prevent occlusal wear, routine preventative care for dental caries is extremely important as minimal caries can lead to pulp exposures.

Key points/Summary :  The most common form of rickets in developed countries is an inherited form of rickets known as vitamin D-resistant rickets (VDRR), usually inherited in an X-linked dominant manner.  Low levels of serum phosphate lead to defective calcification with signs and symptoms of rickets appearing at about 8-10 months of age.  These signs include lateral bowing of the legs, frontal bossing, enlargement of the costochondral junctions, scoliosis and lordosis.  Medical management of VDRR consists of phosphate replacement together with vitamin D given usually in the form of calcitriol.  Dental manifestations are quite characteristic with multiple “spontaneous” dental abscesses usually caused by the large pulp chambers the teeth usually posses.  Histological studies often show abnormal dentin calcification.  The dental manifestations seen in patients with VDRR appear in a spectrum of severity, ranging from the very severe, with involvement of nearly the entire dentition, to the very mild with normal appearance of the teeth.  Effective strategies for the prevention of dental abscesses are available and should be employed to suit each individual patient’s needs. 

Assessment of article:  A child with grade 3 VDRR would be very interesting and stressful to treat.

Prevalence of dental abscess in a population of children with vitamin D-Resistant rickets

Department of Pediatric Dentistry
Lutheran Medical Center

Resident’s Name: Derek Banks Date: June 5, 2009
Article title: Prevalence of dental abscess in a population of children with vitamin D-Resistant rickets
Author(s): A McWhorter, N Seale
Journal: Pediatric Dentistry
Volume (number): 13:2
Month, Year: 1991
Major topic: Metabolic Disorders
Minor topic(s): Vitamin D-Resistant Rickets (VDRR)
Type of Article: Retrospective study
Main Purpose: Evaluate prevalence and contributing factors to abscess in children with VDRR
Overview of method of research: Examining dental records, taking oral histories from parents, guardians, or family dentists, and examining patients
Findings: Out of 25 patients with VDRR, 6 had experienced a dental abscess. Of these six, however, there were 42 total abscesses altogether. 34 of the 42 abscessed without gross caries or previous treatment and the remaining 8 abscessed after receiving treatment and were all posterior teeth. 57% were anterior and 43% posterior. Mandibular and maxillary teeth were involved equally. Sequence of teeth effected loosely followed eruption pattern. No direct correlation could be made between radiographic abnormalities (e.g. pulp chambers extending to the DEJ) and abscess. Most abscesses occurred in patients taking higher dosages of vitamin D, indicating a correlation between the severity of the disease and susceptibility for dental abscess (or possibly a link between vitamin D supplement and susceptibility for abscess?). None of the children in this study had only one abscess. Number of abscesses in ranged from 2-11 in patients who had abscesses. Presence of abscess, therefore, may be a good predictor for future abscess. The authors suggest prophylactic treatment (e.g. pulp/ssc) of primary molars may be indicated in patients with VDRR and a previous abscess.
Key points/Summary : Only 25% of patients with VDRR in this study had abscesses. Of the 25%, all had multiple abscesses. Presence of abscess may be correlated with severity of the disease.
Assessment of article: A larger sample size would be nice.

Rickets

Laura Sabnani 6/4/2009

Rickets

A disease characterized by a softening of the bones causing deformities and fractures due to a lack of Vitamin D, calcium, or phosphate
Mostly caused by Vitamin D Deficiency but can also be caused by severe vomiting and or diarrhea
Patients at risk include breast-fed infants who are not exposed to sunlight or patient’s mothers not exposed to sunlight and individuals who are not drinking fortified milk.
Pts with red hair, vegetarians, patients who are lactose intolerant, have renal disorders, genetics (x-linked)
Calcium and phosphate absorption from the gut requires Vitamin D
If the blood levels become too low of these minerals, calcium and phosphate may be released from the bones
Pts can have bone pain, muscle weakness, increased tendency for fractures, bowed legs, growth disturbances, hypocalcemia, tetany, craniotabes (soft skull)
May be diagnosed by blood test showing low levels of calcium and serum phosphorus. Serum alkaline phosphatase may be high
Arterial blood gases may show metabolic acidosis
X-ray may show altered shape of bones
Bone biopsy rare but can confirm
Treatment increase in dietary HGH, phosphates and Vitamin D
Exposure to sunlight, cod liver oil, halibut-liver oil, and viosterolSupplementation may also be used Vitamin D3 (most readily absorbed form)

Hypophosphatasia

Hypophosphatasia Fact Sheet
Dan Boboia, DDS


What is it?

A rare inborn error of metabolism characterized by a wide spectrum of defects in mineralized tissues. Patients can have a low serum alkaline phosphatase level, excessive excretion of phosphoethanolamine in the urine, and abnormally wide osteoid arms. Clinical manifestations are highly variable and range from almost a total lack of skeletal formation to the premature loss of permanent anterior teeth.

Epidemiology:

Inherited as autosomal recessive trait with a prevalence of 1:100,000 live births

Etiology:

Caused by a defect in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP)

Enzyme is present in most tissues and in blood serum; it cleaves phosphate from three other specific proteins. These proteins are intermediates in diverse and unrelated biochemical pathways.

Signs and Symptoms / Diagnosis:

Classified according to age when symptoms first appear

1) Perinatal - occurs in utero; most infants are stillborns or die shortly after birth; death is usually due to respiratory failure; marked hypocalcification of skeletal structures is often observed

2) Infantile – patients may appear normal up to 6 months of age-after this they may show failure to grow; less severe yet similar skeletal deformities as the lethal form; infants feed poorly, present with rib deformities (predisposing to pnemonia), skull deformities such as wide or obliterated fontenelles / cranial sutures (predisposing to increased intracranial pressure), blue sclera and pathologic lid retraction; generalized osteopenia and ossification defects with a bowing of the long bones; fatal in about half of cases

3) Childhood - child may have rickets, small stature, waddling gate, improperly formed periodontal ligament due to partial or complete lack of cementum formation; premature loss of primary anterior teeth (without evidence of a significant inflammatory response) displaying cementum aphasia; deciduous incisors usually effected first; Skull has radiographic appearance of “beaten copper” showing uniformly spaced, poorly defined, small radiolucencies

4) Adult – typically mild; associated with premature loss of anterior maxillary and mandibular teeth, history of early primary tooth loss, enamel hypoplasia, proptosis, elevated intracranial pressure / brain damage, pseudogout, and stress fractures involving the metatarsal bones of the feet



Treatment and Prognosis:

Treatment of symptoms is all that can be done because the lack of alkaline phosphatase cannot be corrected. Attempts to treat this condition by alkaline phosphatase infusions have been unsuccessful because the enzyme function intracellularly rather than in the extracellular environment. Fractures are treated with orthopedic surgery, prosthetic appliances are indicated to replace missing teeth, but satisfactory results are not always attainable because of the hypoplastic alveolar bone.

Phenylketonuria and dentistry: review of the literature

Department of Pediatric Dentistry
St Joseph Hospital

Resident’s Name: Craig Elice Date: June 5, 2009
Article title: Phenylketonuria and dentistry: review of the literature
Author(s): Walker, JD, Cral JJ, McDonnell
Journal: J Dent. Child
Month, Year: July-August 1982
What is it? PKU is an autosomal recessive disorder noted by a defect in phenylalanine hydroxylase. This enzyme converts phenylalanine into tyrosine, which when defective accumulates in body fluids and causes brain damage and mental retardation.
Epidemiology: affects 1 in 15,000-18,000 births, showing a greater frequency in Irish and Scottish, and generally Caucasians.
Signs and Symptoms: Untreated PKU patients classically show moderate to severe mental retardation with schizoid behavior, hyperkinetic movements, microcephaly and are prone to seizures. The children are blonder then unaffected siblings, have blue eyes, a musty odor, and a tendency to have eczema.
Diagnosis: Early detection of neonates is performed by a bacterial inhibition assay to detect elevated phenylalanine in the serum. A diagnosis is made by having two serum phenylalanine levels greater than 20mg percent at least 24 hours apart while the infant is on a regular diet, Tyrosine levels of less than 5 mg percent, and a pattern of urinary metabolites.
Treatment: Dietary therapy should begin as early as possible. Products like Lofenalac or other low phenylalanine products are given to infants. The diet should be maintained to a minimum of 6 years of age when the brain is almost fully developed. However, continuation of the diet to a later age shows improved behavior and reduction in the severity of the eczema. No special considerations are necessary when treating the oral health of patients diagnosed with PKU

Precocious Puberty

Precocious Puberty

Brian Schmid DMD

Definition:
Early onset of puberty which results in normal development and growth. May be a variation of normal development or a disease-state secondary to abnormal endogenous hormone production or exogenous exposure.

Etiology:
Causes are variable and disparately supported. They include: endocrine disorders, familial associations, genital abnormalities, neurophysiologic conditions and hormone releasing tumors. Idiopathic central precocious puberty can be partial, complete or transient; it is often due to damage to the inhibitory system of the brain or a hypothalamic hamartoma releasing increased amounts of GnRH
Peripheral precocious puberty is caused by the presence of sex steroids from other sources such as gonadal/adrenal tumors, congenital hyperplasia etc.

Symptoms:
Early pubic, breast or genital development, induction of early bone maturation resulting in a reduced final adult height. Pubic hair or genital enlargement before 9.5 years, breast development in boys, pubic hair before 8 or breast development in girls with onset before 7 years, menstruation in girls before 10. Studies have shown that development in both sexes, particularly females is trending younger which has complicated the diagnostic criteria of precocious puberty.

Treatment:
It is often left untreated. Anastrazole, an aromatase inhibitor, can be used to interfere with the production of estrogens. Histrelin is a GnRH inhibitor.

Oral findings:
Often associated with McCune Albright Syndrome which can include polyostotic fibrous dysplasia and hypodontia. Also some crossover with Hyperpituitarism whose oral/dental findings include frontal bossing, prognathism, intradental separation, macroglossia, oligodontia and macrodontia.