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31 December 2007

1. Mean Mom
2. Belly Ache
3. Mitochondrial Myopathy
4. Child Development - Walking
5. Congenital Ovarian Cyst
6. Dysmorphic Syndromes
7. Aversion to Solid Food
8. Suddenly Refuses to Sleep in Crib
9. Disclaimer

• Read Questions & Answers in Another Column

Mean Mom

Before leaving Sunday night to go to his Mom's he told us he was mad at us because we didn't make the courts let him stay home with us. We explained why he had to go and since she hadn't beaten him since we had her in court summer before last and she has slowed on her drinking maybe things wouldn't be too bad. He says he lives in constant fear while there and his Mom told us he slips and calls 911 on her while visiting. The step father who also drinks too much picks him up and when he sees him coming he crouches in the floorboard of our vechicle. He says the man has never harmed him and he protects him from Mean Mom. She refuses to get help for her problems and we are not having any luck finding a child pyscologist to meet with him and go to court for us to limit or elimanate her visitation due to the negative influence she is having on him. We live in southern XX. Any suggestions?

-JC

Dear JC: Get the child into ongoing counseling immediately. The choice of psychologist and commitment to therapy can not be based on the psychologist's willingness to testify. No psychologist would be in a position to go to court on your son's behalf on the basis of the history alone. If the psychologist finds the situation truly harmful to the child, I'm sure he will testify. What's more, even though it seems unfair to the child for him to have to go back into a situation which upsets him and frightens him, perhaps his mother has changed. How will he experience that and gain his trust if the visitations don't proceed. If you gained custody because of the child abuse the court had to be aware of the situation when they ordered visitation.

Sincerely,
Dr. Warren

-Terri

Dear Terri: If the Maalox is helping your daughter's symptoms, than you do not need to do anything further. I cannot predict whether or not she will grow out of it. The only thing I can think of that sounds like what you think your doctor said is H pylori. Helicobacter pylori is a bacterium which can cause ulcer disease. It cannot be diagnosed by symptoms alone. A blood test could aid in making that diagnosis, but endoscopy might be needed (a tube to look into the stomach). Treatment includes certain antibiotics and follow up testing.

If the Maalox does not help, there are many possible causes of stomach pain. The most common causes are related to bowel habits, such as constipation. Food intolerance such as lactose intolerance could cause abdominal pain. Abdominal pain may even be due to conditions outside the intestines such as kidney problems or ovarian problems. If your daughter's pains persist she may need a variety of tests including blood tests, urine tests, stool tests, a log to record her diet and symptoms, and imaging studies such as x-rays, ultrasound, or CT scan. For persistent pain see your doctor again or consult a pediatric gastroenterologist.

Sincerely,
Dr. Warren

The 2-year old has been receiving PT, OT, and Speech and Language services for the past year. He has made some progress, but she has not had a muscle biopsy done yet. Her decision to do this will be based upon her research ahead of time.

Thank for your help!

-MK

Dear MK: Unfortunately, Mitochondrial Myopathy is not one disease, but is a complex list of disorders associated with mitochondrial abnormalities. Goldman: Cecil Textbook of Medicine, 21st ed., Copyright © 2000 W. B. Saunders Company lists the following Mitochondrial Myopathies:

• Pyruvate dehydrogenase complex deficiencies (including Leigh's syndrome)
• Progressive external ophthalmoplegia (PEO)
• Kearns-Sayre syndrome
• Mitochondrial encephalopathy with lactic acidosis and strokelike episodes (MELAS)
• Myoclonic epilepsy and ragged red fibers (MERRF)
• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
• Mitochondrial depletion syndrome
• Leigh's syndrome and neuropathy, ataxia, retinitis pigmentosa (NARP)
• Succinate dehydrogenase deficiency

Several diseases involving muscle, brain, and other organs are associated with structural and functional abnormalities of mitochondria, producing defects in aerobic cellular metabolism, the electron transport chain, and the Krebs cycle.

Several distinct mitochondrial diseases that primarily affect striated muscle or muscle and brain are identified. The Kearns-Sayre syndrome is characterized by the triad of progressive external ophthalmoplegia [paralysis of one or more of the motor nerves of the eye], pigmentary degeneration of the retina, and onset before age 20 years. Heart block, cerebellar deficits, and high cerebrospinal fluid protein content are often associated. Visual evoked potentials [a test] are abnormal. Patients usually do not experience weakness of the trunk or extremities or dysphagia. Most cases are sporadic.

Chronic progressive external ophthalmoplegia may be isolated or accompanied by limb muscle weakness, dysphagia [difficulty swallowing], and dysarthria [motor difficulty speaking]. A few patients described as having ophthalmoplegia plus have additional central nervous system (CNS) involvement. Autosomal dominant inheritance is found in some pedigrees, but most cases are sporadic.

Myoclonic epilepsy and ragged-red fibers (MERRF) and the MELAS syndrome, an acronym for mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes, are other mitochondrial disorders affecting children. The latter is characterized by stunted growth, episodic vomiting, seizures, and recurrent cerebral insults causing hemiparesis, hemianopia or even cortical blindness, and dementia. The disease behaves as a degenerative disorder, and children die within a few years. Ragged-red fibers are characteristic of combined defects in oxidative respiratory complexes I and IV.

Other 'degenerative' diseases of the CNS that also involve myopathy with mitochondrial abnormalities include Leigh subacute necrotizing encephalopathy and cerebrohepatorenal (Zellweger) disease. Another recognized mitochondrial myopathy is cytochrome-c-oxidase deficiency. Oculopharyngeal muscular dystrophy is also fundamentally a mitochondrial myopathy. Many other rare diseases with only a few case reports are suspected of being mitochondrial disorders.

MITOCHONDRIAL DNA DEPLETION SYNDROME

Mitochondrial DNA depletion syndrome presents at birth or shortly afterward and is characterized by generalized hypotonia [floppy muscles] and weakness. Other features can include cardiomyopathy [heart muscle abnormality], renal [kidney] tubular defects, seizures, and liver failure. Infants experience respiratory failure and many die within the first year of life. .... There is also a benign infantile form in which the hypotonic infants can survive and appear normal by age 2 or 3 years.

LEIGH'S SYNDROME

Patients usually present in infancy or early childhood with altered mental status, generalized weakness or hypotonia, vomiting, ataxia [a kind of imbalance], ptosis [droopy eyelid] and ophthalmoplegia, seizures, and respiratory failure. The disease is generally fatal. The molecular genetic characteristics are heterogenous:

Some disorders are X-linked ...; others are maternally inherited and due to point mutations in the mitochondrial ATPase 6 gene; still others are sporadic with large mitochondrial DNA deletions. In some families, mitochondrial ATPase 6 mutations can result in neuropathy, ataxia, and retinitis pigmentosa (the NARP syndrome).

There is no effective treatment of mitochondrial cytopathies, but various 'cocktails' are often used empirically to try to overcome the metabolic deficits. These include oral carnitine supplements, riboflavin, coenzyme Q10 , ascorbic acid (vitamin C), vitamin E, and other antioxidants. Though some anecdotal reports are encouraging, no controlled studies that prove efficacy are published.

Sincerely,
Dr. Warren

Thanks Very Much!

-Melissa

Dear Melissa: Most infants start walking between 10 and 16 months. A few walk earlier, and those that don't start walking until after 16 months must be considered delayed. I can't give you a specific reason for the timing of this event other than to tell you that the nervous system is constantly developing both before and after a baby is born and that the long tracts which run from the brain to the motor neurons in the spinal cord have become myelinated (a form of insulation) so that the infant develops motor control necessary for balance and voluntary walking.

The timing of walking in healthy infants is not affected by any outside influences as long as the child is provided the normal opportunity to move around and interact with people. Disease and malnutrition can both result in delay of motor milestones.

Sincerely,
Dr. Warren

Please guide with the same, your comment on this will be highly appreciated. Thanking you.

-K

Dear K: These are fairly large ovarian cysts even if the baby was not 15 days old. Since this is not a normal occurrence, the recommended treatment would depend on the underlying diagnosis. The treating doctors must determine if there are any associated abnormalities. According to Ryan: Kistner's Gynecology & Women's Health, Seventh Edition, Copyright © 1999 Mosby, Inc. most congenital ovarian cysts are benign cysts thought to be the result of maternal hormone stimulation of the fetal ovary. They usually resolve spontaneously within 2 to 3 months but may require a year to resolve fully. If the infant appears symptomatic and has difficulty feeding or has abdominal pain, it may be necessary to intervene. In these cases, aspiration under the guidance of ultrasonography has been successful. Caution should be exercised in transabdominal aspiration because a cystic structure in the pelvis may be the result of cysts in other organ systems, such as the urinary tract, mesentery, and paratubal or parovarian structures. Aspirated cyst fluid should be sent for cytologic evaluation. If the cyst is complex, unable to be aspirated, or recurs, laparoscopy or laparotomy may be required. Care should be taken to perform a procedure that maintains the pelvic anatomy. Whenever possible, ovarian cystectomy should be performed and normal ovarian tissue conserved.

Unless theses cysts resolve on their own, I would expect surgery would be necessary. I cannot tell you her symptoms since I haven't seen her. If I knew more than what you told me I could possibly give more advice, but I have no personal experience with congenital ovarian cysts.

Sincerely,
Dr. Warren

He is severely speech delayed and is working with a therapist for the last 3 months. He will make some progress then lose ground. He had tubes placed at 15 months because he had fluid behind the ear repeatedly. He also is quite hairy for a little guy.

He's had is thyroid checked and the levels are normal and all other tests come back fine.

I feel like something is wrong and I'm trying to put the pieces together. He is very social and understands everything that is said to him but his expressive skills are almost non-existent.

I'm at a loss on even where to begin or who to ask. Thanks again for your time.

-LD

Dear LD: The process of putting a whole bunch of disparate symptoms and findings together is essentially looking to see if these features fit a known syndrome. The purpose of doing so is to benefit from knowledge about prognosis and treatment. At most pediatric teaching hospitals there are physicians who specialize in syndromes. This is often handled through the genetics department. Since many syndromes include developmental delays, the developmental clinic may also provide a gateway to the appropriate specialist.

Ask your pediatrician to refer you to an appropriate specialist in the pediatric department at the nearest teaching hospital for further evaluation.

Sincerely,
Dr. Warren

My son is small for his age and has taken his time with each stage (ie: walked at 18 months). We have spoken with our pediatrician who doesn't seem to worried about his progress although she stated that his height is below average.

I know that he is getting the nutrients he needs from the baby food however, my son stands out from children his age. He attends a preschool now and they recommended that I come during lunch to feed him since the other children his age are eating solid foods and feeding themselves. I love spending the extra time with him but I don't want him to feel like he's not a part of the group.

Any advice you can give would be greatly appreciated.

-Christine

Dear Christine: Some toddlers simply take longer to get comfortable with solid food. Since your son can be adequately nourished with the foods he will eat, you should not worry about that. For a 26 month old, I really don't think whether or not he feels like part of the group is an issue either; however, it's not too soon for him to start learning to feed himself with a spoon. That way, if his preference for mush persists, he can at least feed himself.

Feeding problems with or without language or developmental delays are evaluated and sometimes treated by speech pathologists. Even though your pediatrician feels there is no cause for concern, you are concerned, so you should ask him about referring you to a speech pathologist who deals with childhood feeding problems. The speech pathologist can determine if there are any issues related to the musculature of your son's mouth contributing to the problem. She can evaluate his swallowing and chewing, and perhaps provide you with an approach to help you with your son's aversion to solid food.

Sincerely,
Dr. Warren

-MU

Dear MU: Some children who do perfectly well with separation early on may inexplicably develop separation problems later on. The separation does indeed cause the child extreme anxiety; however, the only way for the child to overcome this anxiety is to have a set bedtime routine with sleeping habits gently, but consistently enforced. Experiencing the daily routine will teach her that each morning she gets out of bed and you are there for her and that she was okay spending the night without you.

Since it is unusual for a 2½ year old who has been sleeping on her own for 8 months to suddenly develop sleep problems, you owe it to her and yourself to carefully examine every aspect of her life and yours to search for a change which might have provoked this anxiety. Things which could provoke a new separation anxiety could include: toilet training, discontinuation of bottles, a new baby sitter, mom getting a job or a change in mom's work schedule, a new sibling, a separation such as a business trip or hospitalization for a parent, loss of a pet, a death in the family (even a distant relative if it has affected the parents), etc.

Should you find that you are unable to resolve the problem or believe that it is more than a childhood separation problem, then you should consult a child psychologist.

Sincerely,
Dr. Warren

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